123: Cutaneous Changes in Nutritional Disease Flashcards
(480 cards)
1
Q
What are the two main types of Protein Energy Malnutrition (PEM)?
A
Marasmus and Kwashiorkor.
2
Q
What is the primary characteristic of Marasmus?
A
Severe wasting and stunting with body weight for age less than 60% of expected.
3
Q
What is the primary characteristic of Kwashiorkor?
A
Edematous or ‘wet’ PEM with body weight for age between 60% to 80% due to inadequate protein or fat intake.
4
Q
What is the pathophysiological effect of adapted starvation on macronutrient intake?
A
Decreased intake of all macronutrients, particularly carbohydrates, leads to suppressed insulin production and muscle breakdown.
5
Q
What are some clinical findings associated with Protein Energy Malnutrition (PEM)?
A
Failure to thrive, dry and wrinkled skin, hair loss, and loss of subcutaneous fat and muscle mass.
6
Q
What is a key finding in children with Kwashiorkor?
A
Failure to thrive, often accompanied by edema and irritability.
7
Q
What does ‘monkey facies’ refer to in the context of PEM?
A
The aged or wizened appearance due to loss of buccal fat pads.
8
Q
What is the significance of the ‘flag sign’ in hair observed in Kwashiorkor?
A
It indicates alternating bands of light and dark color in the hair shaft due to intermittent periods of malnutrition.
9
Q
What are the consequences of nonadapted starvation on protein synthesis?
A
Increased carbohydrate intake relative to decreased protein and fat intake inhibits protein synthesis, leading to hypoproteinemia and fatty liver.
10
Q
What are the key differences between Marasmus and Kwashiorkor in terms of body weight and nutritional deficiencies?
A
Disorder | Body Weight for Age | Nutritional Deficiency |
|————|———————|————————-|
| Marasmus | < 60% of expected | Global nutrient deficiencies |
| Kwashiorkor| 60% to 80% of expected| Protein and fat deficiency from grain-derived foods |
11
Q
What are the clinical findings associated with Marasmus?
A
- Severe wasting and stunting
- Body weight for age < 60% of expected
- Emaciated appearance
- Dry, thin, loose, wrinkled skin
- Hair growth slows, hair loss, thin, brittle hair
- Nails may show fissuring with impaired growth
- Loss of both subcutaneous fat and muscle mass
- Abdominal muscle hypotonia leading to abdominal distension
- Decreased resting body temperature and bradycardia
12
Q
What are the clinical findings associated with Kwashiorkor?
A
- Failure to thrive, especially in children 6 months to 5 years
- Edema and irritability
- Skin findings: generalized dermatitis likened to flaking enamel paint
- Increased pigmentation on extensor surfaces of arms and legs
- Hair color developing a red tint to gray-white hair
- Flag sign observed in hair
- Peripheral edema from hypoproteinemia
- Fatty infiltration of the liver leading to abdominal distention
13
Q
What are the pathophysiological differences between adapted and nonadapted starvation?
A
Type of Starvation | Characteristics |
|————————|——————|
| Adapted Starvation | - Decreased intake of all macronutrients, particularly carbohydrates
- Suppressed insulin production
- Muscle breakdown occurs in the first 24 hours
- Fat breakdown creates ketone bodies for brain use
- Reduced muscle breakdown and ammonia synthesis |
| Nonadapted Starvation | - Increased carbohydrate intake relative to decreased protein and fat
- Insulin production is not suppressed
- Hypoproteinemia, edema, and diarrhea develop
- Unable to manufacture lipoproteins, leading to fatty liver
- Increased susceptibility to infections and septicemia |
14
Q
What are macronutrients and their primary functions?
A
Macronutrients include carbohydrates, proteins, and lipids. They are nutrients needed in large quantities to fuel metabolic processes and provide the substrate for building and maintaining cellular structure.
15
Q
What are micronutrients and why are they important?
A
Micronutrients are vitamins and minerals necessary and required in minute quantities. They play essential roles in various physiological processes.
16
Q
What are some conditions that put individuals at risk for nutritional diseases?
A
Conditions include hypercatabolic states (e.g., cancer, AIDS, hepatic/renal disease), GI diseases (e.g., cystic fibrosis, inflammatory bowel disease), GI surgery (e.g., bariatric procedures), chronic medication use (e.g., anticonvulsants, antibiotics), genetic metabolic defects, hepatic disease, and syndromes of nutrient excess.
17
Q
What is Protein Energy Malnutrition (PEM) and its two main types?
A
PEM is a spectrum of disorders describing varying degrees of protein and calorie deficiency. The two main types are Marasmus (severe wasting and stunting due to chronic global nutrient deficiencies) and Kwashiorkor (edematous or ‘wet’ PEM caused by diets rich in carbohydrates but poor in protein and fat).
18
Q
What are the clinical findings of Protein Energy Malnutrition (PEM)?
A
Clinical findings include failure to thrive, wasting, stunting, dry and wrinkled skin, hair loss, brittle nails, loss of subcutaneous fat and muscle mass, angular cheilitis, bradycardia, and susceptibility to infections.
19
Q
What is the pathophysiology of adapted starvation?
A
Adapted starvation involves decreased intake of macronutrients, suppressed insulin production, muscle breakdown in early stages, fat breakdown creating ketone bodies in later stages, and eventual use of lean body mass in prolonged states.
20
Q
What is the pathophysiology of nonadapted starvation?
A
Nonadapted starvation occurs when carbohydrate intake is increased relative to decreased protein and fat intake. Insulin production is not suppressed, leading to hypoproteinemia, edema, diarrhea, fatty liver, and susceptibility to infections.
21
Q
What are the clinical findings of Kwashiorkor?
A
Findings include failure to thrive with edema, irritability, lethargy, dermatitis resembling flaking enamel paint, red-tinted hair, ‘flag sign’ in hair, peripheral edema, and fatty liver infiltration.
22
Q
If a patient has a fatty liver and peripheral edema due to hypoproteinemia, what condition might they have?
A
Kwashiorkor
23
Q
If a patient presents with a fatty liver, peripheral edema, and abdominal distension, what condition might they have?
A
Kwashiorkor
24
Q
What are the steps involved in the pathophysiology of adapted starvation?
A
- Decreased intake of all macronutrients, particularly carbohydrates, suppresses insulin production.
- Catabolic hormones act unopposed, converting glycogen into glucose.
- Early stages: Muscle breakdown occurs within the first 24 hours, and gluconeogenesis releases glucose.
- Later stages: Fat breakdown creates ketone bodies, which are utilized by the brain and CNS, reducing muscle breakdown and ammonia synthesis.
- In prolonged states: Wasting occurs, and lean body mass is eventually used when all other sources are expended.
25
What are the steps in the pathophysiology of nonadapted starvation?
1. Increased carbohydrate intake relative to decreased protein and fat intake.
2. Insulin production is not suppressed.
3. Without concomitant fat and protein intake, insulin inhibits protein synthesis.
4. Hypoproteinemia, edema, and diarrhea develop.
5. Without protein synthesis, the body cannot manufacture lipoproteins, leading to fat accumulation and fatty liver.
6. Immune proteins are not produced, increasing susceptibility to opportunistic infections and septicemia.
26
What are the steps in the pathophysiology of Protein-Energy Malnutrition (PEM)?
1. Chronic nutrient deficiencies lead to suppressed insulin production.
2. Catabolic hormones dominate, leading to muscle and fat breakdown.
3. In marasmus, severe wasting and stunting occur due to global nutrient deficiencies.
4. In kwashiorkor, hypoproteinemia leads to edema and fatty liver.
5. Immune proteins are not produced, increasing susceptibility to infections.
27
What are the steps in the clinical findings of kwashiorkor?
1. Failure to thrive and poor weight gain are observed.
2. Skin findings include generalized dermatitis and flaking resembling enamel paint.
3. Hair develops a red tint or gray-white color, with intermittent bands of light and dark color (flag sign).
4. Peripheral edema develops due to hypoproteinemia.
5. Fatty infiltration of the liver leads to abdominal distension.
28
A patient presents with peripheral edema, abdominal distension, and a history of a carbohydrate-rich but protein-poor diet. What is the likely diagnosis, and what is the underlying pathophysiology?
The likely diagnosis is kwashiorkor. The underlying pathophysiology involves nonadapted starvation, where increased carbohydrate intake relative to protein and fat leads to hypoproteinemia, edema, and fatty liver infiltration.
29
What is Marasmic Kwashiorkor?
A hybrid form of malnutrition where stunting is associated with edema.
30
What are some common conditions associated with PEM in adults?
Chronic illnesses, eating disorders like anorexia nervosa, and elderly patients.
31
What percentage of adult dialysis patients are estimated to have PEM?
25% to 50%.
32
What are some manifestations of PEM?
Xerosis, acquired ichthyosis, hyperpigmentation, diffuse telogen effluvium, lanugo, and dull hair.
33
What laboratory tests are important for diagnosing PEM?
Screening for hypoglycemia, anemia, urinalysis, blood smear for malaria, and skin testing for tuberculosis.
34
What is the significance of elevated soluble CD14 levels in patients?
They are indicators of protein-energy wasting and increased mortality in hemodialysis patients.
35
What is the preferred treatment for patients with PEM?
Oral refeeding with rehydration salts or fortified formulas as tolerated.
36
What should be avoided during IV hyperalimentation in PEM patients?
Excessively rapid rehydration due to the risk of congestive heart failure.
37
What are some differential diagnoses for PEM?
Acrodermatitis enteropathica, atopic dermatitis, seborrheic dermatitis, and Langerhans cell histiocytosis.
38
What are the common manifestations of Protein Energy Malnutrition (PEM) in adults?
Common manifestations of PEM in adults include:
1. Xerosis or acquired ichthyosis
2. Hyperpigmentation in areas such as the perioral, periocular, and malar regions
3. Diffuse telogen effluvium, lanugo, and thin, dry, dull hair
39
What laboratory tests are recommended for patients suspected of having Kwashiorkor?
Recommended laboratory tests for patients suspected of having Kwashiorkor include:
- Screening for hypoglycemia and anemia
- Urinalysis and blood smear for malaria parasites
- Fecalysis for blood and parasites
- Skin testing for tuberculosis
- Chest X-ray to check for pneumonia, tuberculosis, heart failure, rickets, and fractures
40
What are the treatment options for patients with Marasmic Kwashiorkor?
Treatment options for patients with Marasmic Kwashiorkor include:
1. Hospitalization due to concurrent hypoglycemia, hypothermia, dehydration, and sepsis
2. IV hyperalimentation for those who are not awake and responsive (avoid rapid rehydration)
3. Oral refeeding with rehydration salts or fortified formulas as tolerated
4. Empiric antibiotic therapy may be considered for suspected sepsis
41
What is Marasmic Kwashiorkor?
It is a hybrid form of malnutrition where stunting is associated with edema.
42
What condition might a patient with diffuse telogen effluvium and hyperpigmentation of the malar areas have?
Protein-energy malnutrition (PEM) in adults.
43
What condition might a patient with diffuse telogen effluvium, xerosis, and hyperpigmentation of the malar areas have?
Protein-energy malnutrition (PEM) in adults.
44
What condition might a patient with a history of chronic systemic inflammatory response to dialysis and presents with xerosis and acquired ichthyosis have?
Protein-energy malnutrition (PEM) in adults.
45
What condition might a patient with a history of chronic systemic inflammation and elevated soluble CD14 levels have?
Protein-energy malnutrition (PEM).
46
What does elevated soluble CD14 levels in hemodialysis patients indicate?
It indicates protein-energy wasting and systemic inflammation, associated with increased mortality and elevated markers such as C-reactive protein and interleukin-6.
47
What is the function of essential fatty acids (EFAs)?
Cell membrane fluidity, inflammatory mediators, and lamellar granule formation in the stratum corneum.
48
What are common causes of essential fatty acids (EFAs) deficiency?
Inadequate intake, malabsorption, or excessive loss.
49
Who are patients at risk for EFA deficiency?
Individuals with poor dietary intake, alcoholics, anorexia nervosa, malabsorptive conditions, cystic fibrosis patients, and premature low-birthweight infants.
50
What are some clinical findings associated with EFA deficiency?
Xerosis, scaly skin, poor wound healing, brittle nails, alopecia, and hyper/hypopigmentation of hair.
51
What laboratory tests indicate EFA deficiency?
Low levels of linoleic acid and arachidonic acid, and an abnormal intermediary ratio of 5,8,11-eicosatrienoic acid to arachidonic acid.
52
What is the optimal treatment for EFA deficiency?
Oral or intravenous supplementation of EFA, representing 1% to 2% of total daily calories.
53
What is the most common cause of preventable childhood blindness?
Vitamin A deficiency.
54
What condition results from Vitamin K deficiency in newborns?
Hemorrhagic disease of the newborn, which can present with bleeding.
55
What is carotenemia?
A condition resulting from excess carotene not converted to vitamin A in the intestinal mucosa deposits in the stratum corneum.
56
What is recommended for exclusively breastfed infants regarding Vitamin D?
Vitamin D supplementation is recommended for exclusively breastfed infants and others with inadequate oral intake or sun exposure.
57
What are the clinical findings associated with essential fatty acid (EFA) deficiency?
Findings include xerosis, scaly erythema, poor wound healing, brittle nails, alopecia, fatty liver infiltration, blunted immune response, anemia, thrombocytopenia, and growth retardation.
58
What are the dietary sources of essential fatty acids (EFAs)?
Essential fatty acids (EFAs) are derived from fish oils (ω-3 series) and vegetable oils (ω-6 series).
59
What is the optimal treatment for preventing essential fatty acid deficiency?
Topical application of sunflower seed and safflower oils containing linoleic acid, oral or intravenous supplementation of EFAs, and ensuring that EFAs represent 1% to 2% of total daily calories.
60
What are the risk factors for essential fatty acid (EFA) deficiency?
Patients at risk include individuals with poor dietary intake, alcoholics, those with anorexia nervosa, individuals with malabsorptive conditions, cystic fibrosis patients, and premature low-birthweight infants.
61
What are the consequences of vitamin A deficiency?
Vitamin A deficiency can lead to preventable childhood blindness and carotenemia.
62
What are the sources of essential fatty acids (EFAs)?
Sources include fish oil and vegetable oil.
63
What are the two main series of essential fatty acids (EFAs) and their sources?
The ω-3 series is derived from α-linoleic acid found in fish oils, while the ω-6 series is derived from linoleic acid found in vegetable oils.
64
What is the treatment for essential fatty acid (EFA) deficiency?
Treatment includes topical application of oils containing linoleic acid and oral or intravenous supplementation of EFAs.
65
What are the fat-soluble vitamins and their key deficiencies?
Fat-soluble vitamins include A, D, E, and K. Vitamin A deficiency causes preventable childhood blindness, Vitamin D deficiency leads to rickets, Vitamin E deficiency can cause neurodegenerative disorders, and Vitamin K deficiency leads to impaired coagulation and hemorrhage.
66
What condition might a patient with severe alopecia, brittle nails, and poor wound healing have?
Essential fatty acid deficiency.
67
What deficiency might a patient with xerosis, scaly erythema, and intertriginous erosions have?
Essential fatty acid deficiency.
68
What deficiency might a patient with a history of cystic fibrosis and presents with poor wound healing, brittle nails, and alopecia have?
Essential fatty acid deficiency.
69
What deficiency might a patient with hypopigmented hair, brittle nails, and traumatic purpura have?
Essential fatty acid deficiency.
70
What are the steps in the pathogenesis of essential fatty acid (EFA) deficiency?
1. Inadequate intake, malabsorption, or excessive loss of EFAs occurs. 2. Linoleic acid levels decrease, leading to abnormal byproducts. 3. Plasma levels of 5,8,11-eicosatrienoic acid increase. 4. The ratio of this abnormal intermediary to arachidonic acid (≥0.2) confirms EFA deficiency.
71
What are the steps in the treatment of essential fatty acid (EFA) deficiency?
1. Topical application of sunflower seed or safflower oils containing linoleic acid improves cutaneous findings. 2. Oral or intravenous supplementation of EFAs is the optimal treatment. 3. Ensure EFAs represent 1% to 2% of total daily calories to prevent deficiency.
72
What is the likely deficiency and treatment for a patient with cystic fibrosis presenting with xerosis, scaly erythema, and poor wound healing?
The likely deficiency is essential fatty acid (EFA) deficiency. Treatment involves oral or intravenous supplementation of EFAs, ensuring they represent 1% to 2% of total daily calories.
73
What is the diagnosis and laboratory marker for a patient with xerosis, scaly erythema, and intertriginous erosions with low levels of linoleic and arachidonic acids?
The diagnosis is essential fatty acid (EFA) deficiency. The diagnostic marker is an elevated ratio (≥0.2) of 5,8,11-eicosatrienoic acid to arachidonic acid.
74
What deficiency and treatment might a patient with diffuse alopecia, brittle nails, and poor wound healing and a history of biliary disease have?
The likely deficiency is essential fatty acid (EFA) deficiency. Treatment involves oral or intravenous supplementation of EFAs, ensuring they represent 1% to 2% of total daily calories.
75
What is the diagnosis and treatment for a patient with xerosis, scaly erythema, and poor wound healing with low levels of linoleic acid?
The diagnosis is essential fatty acid (EFA) deficiency. Treatment involves oral or intravenous supplementation of EFAs, ensuring they represent 1% to 2% of total daily calories.
76
What is the diagnosis and pathophysiology for a patient with erythema, intertriginous erosions, and brittle nails with elevated 5,8,11-eicosatrienoic acid levels?
The diagnosis is essential fatty acid (EFA) deficiency. The pathophysiology involves impaired synthesis of arachidonic acid and other EFAs, leading to skin and systemic manifestations.
77
What deficiency and treatment might a patient with alopecia, xerosis, and poor wound healing and a history of cystic fibrosis have?
The likely deficiency is essential fatty acid (EFA) deficiency. Treatment involves oral or intravenous supplementation of EFAs, ensuring they represent 1% to 2% of total daily calories.
78
What is the role of vitamin A in the body?
Vitamin A is important in retinal photoreceptor function, epithelial proliferation, and keratinization.
79
What are the two most clinically important metabolites of vitamin A?
Retinal and retinoic acid.
80
What is retinal's role in the body?
Retinal is a key component of rhodopsin generation.
81
What regulates cell differentiation in the body?
Retinoic acid.
82
What are some plant sources of vitamin A?
Dark green leafy vegetables, red palm oil, and brightly colored fruits like papaya, mango, carrots, tomatoes, apricots, and cantaloupe.
83
What is beta-carotene?
Beta-carotene is a precursor to vitamin A found in plants.
84
How is retinol formed in the body?
Retinal can be reduced to retinol in intestinal villous cells.
85
What are animal sources of vitamin A?
Egg yolk, liver, fish, fortified milk, and dairy products.
86
How are retinyl esters related to vitamin A?
Retinyl esters are vitamin A in animal sources, which are hydrolyzed to retinol in the intestinal lumen.
87
What happens to retinol in the liver?
In the liver, retinol is stored as retinyl esters and can be converted back to retinol when needed.
88
What are the two most clinically important metabolites of Vitamin A?
1. Retinal - a key component of rhodopsin generation. 2. Retinoic acid - regulates cell differentiation.
89
What are the primary plant sources of Vitamin A?
Dark, green, leafy vegetables, red palm oil, and brightly colored fruits (papaya, mango, carrots, tomatoes, apricots, cantaloupe).
90
How is retinol stored in the liver and what happens when it is needed?
In the liver, retinol is stored as Retinyl Esters. When needed, it can be converted to retinol and bound to retinol binding protein and transthyretin for circulation throughout the body.
91
What is the role of Retinyl Esters in the metabolism of Vitamin A?
Retinyl Esters are vitamin A in animal sources, which are hydrolyzed to retinol in the intestinal lumen and then released into the bloodstream bound to chylomicrons for transport to the liver.
92
What is the significance of beta-carotene in relation to Vitamin A?
Beta-carotene is a precursor to vitamin A found in plants, existing as a 2-molecule complex of the carotenoid known as Retinal.
93
What are the primary sources of Vitamin A?
Plant sources include dark green leafy vegetables, red palm oil, and brightly colored fruits. Animal sources include egg yolk, liver, fish, fortified milk, and dairy products.
94
What are the steps in the pathogenesis of Vitamin A metabolism?
1. Plant sources provide beta-carotene, a Vitamin A precursor. 2. Beta-carotene is converted to retinal in intestinal villous cells. 3. Retinal is reduced to retinol, which is esterified to retinyl esters in the intestinal mucosa. 4. Retinyl esters are released into the bloodstream bound to chylomicrons and transported to the liver for storage. 5. In the liver, retinyl esters are converted to retinol and bound to retinol-binding protein and transthyretin for circulation throughout the body.
95
What is the most common cause of preventable blindness in children?
Vitamin A deficiency (VAD).
96
What are the early manifestations of Vitamin A deficiency?
Impaired dark adaptation (nyctalopia) followed by xerophthalmia.
97
What skin condition is associated with Vitamin A deficiency?
Phrynoderma, also known as 'toad skin'.
98
What are the recommended daily allowances (RDA) of Vitamin A for adult males and females?
700 mcg for adult females and 900 mcg for adult males.
99
What is the treatment for Vitamin A deficiency?
600 to 3000 mcg of oral vitamin A daily until symptoms resolve and serum levels normalize.
100
What laboratory test can indicate low serum retinol levels?
The presence of serum retinoic acid for 4 hours after oral administration of retinoyl glucuronide.
101
What are Bitot spots and their association with Vitamin A deficiency?
White patches on the conjunctiva associated with Vitamin A deficiency.
102
What are some primary causes of Vitamin A deficiency?
Inadequate intake, fat malabsorption states, and liver disease.
103
What are the cutaneous findings associated with severe Vitamin A deficiency?
Corneal xerosis, ulceration, keratomalacia, and deep skin fissuring (dermomalacia).
104
What indicates low serum retinol levels?
The presence of serum retinoic acid for 4 hours after oral administration of retinoyl glucuronide.
105
What are the early clinical manifestations of Vitamin A deficiency (VAD)?
- Impaired dark adaptation (nyctalopia)
- Xerophthalmia
- Corynebacterium xerosis on the sclera
- Bitot spots: white patches
106
What is the recommended daily allowance (RDA) of Vitamin A for adult males and females?
| Group | RDA (mcg) |
|----------------|-----------|
| Adult females | 700 |
| Adult males | 900 |
107
What are the severe clinical findings associated with Vitamin A deficiency?
- Corneal xerosis
- Ulceration
- Keratomalacia, which may lead to corneal perforation, prolapse of the iris, and blindness
108
What are the primary causes of Vitamin A deficiency (VAD)?
- Inadequate intake
- Fat malabsorption states
- Liver disease
- Eating disorders and restrictive diets
- Chronic illness
109
What is Phrynoderma and how is it associated with Vitamin A deficiency?
Phrynoderma, or 'toad skin,' is characterized by keratotic follicular papules on the anterolateral thighs and posterolateral upper arms, which can spread to other areas. It is nonspecific and can also indicate deficiencies in B-complex vitamins, vitamin C, vitamin E, EFA deficiency, PEM, and general malnutrition states.
110
What are the clinical findings of Vitamin A deficiency?
Findings include impaired dark adaptation (nyctalopia), xerophthalmia, Bitot spots, corneal xerosis, keratomalacia, xerosis, scaling, and squamous metaplasia of mucosal surfaces.
111
If a patient has Bitot spots and impaired dark adaptation, what condition might they have?
Vitamin A deficiency.
112
If a patient has a history of restrictive diets and presents with xerophthalmia, Bitot spots, and impaired dark adaptation, what condition might they have?
Vitamin A deficiency.
113
If a patient has a history of inadequate dietary intake and presents with keratotic follicular papules on the anterolateral thighs, what condition might they have?
Vitamin A deficiency (Phrynoderma).
114
If a patient has a history of inadequate dietary intake and presents with deep skin fissuring and squamous metaplasia of the salivary glands, what condition might they have?
Vitamin A deficiency.
115
If a patient has a history of chronic liver disease and presents with Bitot spots, xerosis, and keratomalacia, what condition might they have?
Vitamin A deficiency.
116
What are the steps in the treatment of Vitamin A deficiency?
1. Administer 600 to 3000 mcg of oral Vitamin A daily until symptoms resolve and serum levels normalize.
2. Adjust dosage based on age and physiological state (e.g., pregnancy, lactation).
3. Monitor for early manifestations such as impaired dark adaptation and xerophthalmia.
4. Address severe deficiency symptoms like corneal xerosis and keratomalacia to prevent blindness.
117
What are the steps in the clinical findings of Vitamin A deficiency?
1. Early manifestations include impaired dark adaptation (nyctalopia) and xerophthalmia.
2. Bitot spots (white patches) appear on the sclera.
3. Severe deficiency leads to corneal xerosis, ulceration, and keratomalacia.
4. Cutaneous findings include xerosis, scaling, and deep skin fissuring (dermomalacia).
5. Squamous metaplasia affects salivary glands, nasal and oral mucosa, causing xerostomia, hyposmia, and hypogeusia.
118
A patient presents with follicular hyperkeratosis, xerosis, and Bitot spots on the sclera. What is the likely deficiency, and what is the recommended treatment?
The likely deficiency is vitamin A deficiency. Treatment involves administering 600 to 3000 mcg of oral vitamin A daily until symptoms resolve and serum levels normalize.
119
A patient presents with follicular hyperkeratosis, xerosis, and keratomalacia. The patient’s diet lacks dark green leafy vegetables and animal products. What is the diagnosis, and what is the pathophysiology?
The diagnosis is vitamin A deficiency. The pathophysiology involves impaired epithelial proliferation and keratinization due to a lack of retinoic acid, a metabolite of vitamin A.
120
What are the acute symptoms of Vitamin A toxicity?
Dry, scaly skin, large areas of desquamation, fissuring of the lips, headache, fatigue, anorexia, nausea, vomiting, blurred vision, pseudotumor cerebri, myalgias, arthralgias, and bone pain.
121
What is the chronic toxicity threshold for Vitamin A in adults?
Daily ingestion of more than 100,000 IU for more than 6 months.
122
What are the laboratory findings associated with Vitamin A toxicity?
Elevated levels of calcium and alkaline phosphatase, leading to calcification of tendons, ligaments, and soft tissues.
123
What dietary factors can lead to increased carotene levels?
Hypothyroidism, pancreatic or biliary dysfunction, mashing or cooking vegetables, high-fat meals, and certain conditions leading to hyperlipidemia.
124
What are the clinical findings of chronic Vitamin A toxicity in adults?
Dryness of the lips, peeling of palms and soles, alopecia, hyperpigmentation of the face and neck, anorexia, fatigue, and weight loss.
125
What is carotenemia and what causes it?
Carotenemia is a benign disorder characterized by yellow skin pigmentation and increased serum carotene levels, often due to excessive intake of carotene.
126
What are the risks associated with excessive beta-carotene supplementation?
Increased risk of lung, gastric cancer, and aggressive prostate cancer.
127
What is the relationship between Vitamin A and calcium-regulating hormones?
Vitamin A-mediated and Vitamin D-mediated intracellular signaling pathways interact with calcium-regulating hormones, which can lead to pathological bone findings.
128
What are the clinical findings associated with acute vitamin A toxicity?
- Dry, scaly skin, large areas of desquamation
- Fissuring of the lips and angles of the mouth
- Headache, fatigue, anorexia, nausea, vomiting, blurred vision, pseudotumor cerebri
- Myalgias, arthralgias, and bone pain and swelling
129
What are the risks associated with chronic vitamin A toxicity?
- Daily ingestion of >25,000 IU for >6 years or >100,000 IU for >6 months of preformed vitamin A
- Increased sensitivity in children compared to adults
- Risks include systemic vitamin A derivatives for acne, psoriasis, and ichthyosis
130
What laboratory tests are relevant for assessing vitamin A toxicity?
- Levels of calcium and alkaline phosphatase
- Indicators of calcification of tendons, ligaments, and soft tissues
- Deposition of excess vitamin A in adipose tissue and perisinusoidal fibrosis of the liver, leading to cirrhosis
131
What are the potential effects of excessive carotene intake?
- Carotenemia: yellow skin pigmentation and increased serum carotene levels
- Associated with a shift from a meat-based diet to a more plant-based diet
- Risk of lung, gastric cancer, and aggressive prostate cancer due to beta-carotene supplementation
132
What conditions can lead to elevated carotene levels?
| Condition | Effect on Carotene Levels |
|-----------|--------------------------|
| Hypothyroid | Decreased conversion to retinol |
| Pancreatic/Biliary Dysfunction | Elevated carotene levels due to deficiency of pancreatic lipase and bile acids |
| High-fat meal | Increased absorption |
| Liver Disease | Impaired conversion of carotene to vitamin A |
| Anorexia Nervosa | Reduced intake of vegetables and carotene-rich foods |
133
What are the clinical findings of Vitamin A toxicity?
Acute toxicity includes dry, scaly skin, headache, nausea, and pseudotumor cerebri. Chronic toxicity includes alopecia, hyperpigmentation, exfoliative cheilitis, and skeletal changes like growth retardation and spontaneous fractures.
134
If a patient has a history of consuming large quantities of nonprescription vitamin A supplements and presents with alopecia, hyperpigmentation, and pseudotumor cerebri, what condition might they have?
Vitamin A toxicity.
135
What are the steps in the clinical findings of Vitamin A toxicity?
1. Acute toxicity presents with dry, scaly skin, desquamation, and fissuring of the lips.
2. Symptoms include headache, fatigue, anorexia, nausea, vomiting, and blurred vision.
3. Chronic toxicity in adults causes dryness of the lips, pruritic scaly skin, and alopecia.
4. In children, coarse hair, diffuse alopecia, and pseudotumor cerebri are observed.
5. Skeletal changes include growth retardation and spontaneous bone fractures.
136
A patient presents with dry, scaly skin, alopecia, and pseudotumor cerebri. The patient has been taking high doses of vitamin A supplements for several months. What is the likely condition, and what should be done?
The likely condition is chronic vitamin A toxicity. Treatment involves discontinuing the excess vitamin A intake, which will resolve symptoms except for liver cirrhosis and pseudotumor cerebri consequences.
137
What does excessive ingestion of carotenes NOT result in?
Hypervitaminosis A.
138
What is carotenoderma?
The yellow discoloration of skin due to carotenemia, sparing mucous membranes like the sclera.
139
What is the primary source of Vitamin D synthesis in the body?
From the precursor molecule 7-dehydrocholesterol by UV light.
140
What are the dietary sources of Vitamin D?
Fortified milk, fish oil, and fish such as salmon, sardines, herring, tuna, cod, and shrimp.
141
What is the most common disorder related to Vitamin D deficiency?
Vitamin D-deficient rickets.
142
What is the treatment for Type I Vitamin D-dependent rickets?
Supplements of 1,25-hydroxyvitamin D.
143
What are the risks associated with Vitamin D deficiency?
Increased risk of cardiovascular disease, hip fractures, and colon cancer mortality.
144
What groups are at risk for Vitamin D deficiency?
Those with inadequate diet, malabsorption, decreased sunlight exposure, elderly, and exclusively breastfed babies without supplementation.
145
What is the effect of Vitamin D on the immune response?
It is involved in the innate immune response and promotes macrophage activation.
146
What is the clinical significance of carotenemia and carotenoderma?
- Excessive ingestion of carotenes does NOT result in hypervitaminosis A.
- Slow conversion of carotene to vitamin A in the intestinal mucosa is not rapid enough to produce toxic amounts of vitamin A.
- Carotenoderma presents as yellow discoloration of skin, sparing mucous membranes, and is noticeable in artificial light.
147
What laboratory findings indicate carotenemia?
- Occurs when serum levels reach 3-4 times normal levels (> 250 mcg/dL).
- Detectable at 4 to 7 weeks following initiation of a carotenoid-rich diet.
148
What are the types of Vitamin D-dependent rickets?
| Type | Description | Treatment |
|------|-------------|-----------|
| I | Autosomal recessive defect in renal vitamin D-1α-hydroxylase | Supplements of 1,25-hydroxyvitamin D |
| II | Hereditary Vitamin D-resistant rickets | High doses of 1,25-hydroxyvitamin D and Ca |
149
What factors contribute to Vitamin D deficiency?
- Avoidance of sun exposure
- Excessive transepidermal calcium loss
- Defective Vitamin D synthesis in affected skin
- Decreased intestinal calcium absorption secondary to systemic retinoid therapy
150
What is the role of 1α-hydroxylase?
It is involved in the synthesis of 1,25-hydroxyvitamin D.
151
What is the treatment for Hereditary Vitamin D-resistant rickets?
High doses of 1,25-hydroxyvitamin D and calcium.
152
What factors contribute to Vitamin D deficiency?
- Avoidance of sun exposure
- Excessive transepidermal calcium loss
- Defective Vitamin D synthesis in affected skin
- Decreased intestinal calcium absorption secondary to systemic retinoid therapy
153
What are the groups at risk for Vitamin D deficiency?
- Individuals with inadequate diet
- Those with malabsorption issues
- Elderly or debilitated individuals
- People on anticonvulsants
- Dark-skinned individuals in areas with poor sun exposure
- Exclusively breastfed babies without vitamin supplementation
154
What is carotenemia?
Carotenemia is a benign disorder caused by excessive intake of carotene, leading to yellow skin pigmentation (carotenoderma) that spares mucous membranes.
155
If a patient has a yellow discoloration of the skin that spares the sclera, what condition might they have?
Carotenemia
156
If a patient presents with a yellow discoloration of the skin that is most noticeable in artificial light and spares the sclera, what condition might they have?
Carotenemia
157
If a patient presents with a history of consuming large amounts of carrots and papayas and symptoms of yellow skin pigmentation sparing the sclera, what condition might they have?
Carotenemia
158
What are the steps in the synthesis and activation of Vitamin D?
1. Vitamin D is obtained through dietary intake (e.g., fortified milk, fish oil) or synthesized in the epidermis from 7-dehydrocholesterol (provitamin D3) by UV light.
2. Previtamin D3 undergoes spontaneous, temperature-dependent isomerization to Vitamin D3 (cholecalciferol).
3. Vitamin D3 enters the dermal capillaries and joins exogenous Vitamin D2 (ergocalciferol).
4. In the liver, Vitamin D undergoes hydroxylation to form 25-hydroxyvitamin D.
5. In the kidney, 25-hydroxyvitamin D is hydroxylated again to form the active form, 1,25-hydroxyvitamin D (calcitriol).
159
What is the likely condition for a patient with yellow discoloration of the skin, particularly on the palms and soles, but the sclera is spared?
The likely condition is carotenemia or carotenoderma.
## Footnote
Treatment involves discontinuing excessive carotene intake, after which the yellow pigmentation will fade.
160
What are the classic manifestations of vitamin D-deficient rickets?
Ca and P deficiency leads to poor calcification of new bones, fraying and widening of the metaphysis, rachitic rosary, craniotabes, lateral bowing of the lower extremities, frontal bossing, widening of the wrists, scoliosis, hypotonia, fractures, dental defects, and hypocalcemic seizures or tetany.
161
What is the recommended daily value of vitamin D?
5 to 10 mcg.
162
What is the role of sunlight in vitamin D production?
Limited sun-light exposure is necessary to produce adequate amounts of vitamin D3.
163
What are the laboratory indicators of vitamin D deficiency?
Alkaline phosphatase levels and serum 25-hydroxyvitamin D levels.
164
What is the treatment for vitamin D deficiency?
Oral vitamin D repletion with dihydroxyvitamin D in addition to a calcium-rich diet, and 200 to 400 mcg vitamin D per day until resolution of symptoms.
165
What is the significance of vitamin E in the diet?
Vitamin E is a fat-soluble vitamin associated with deficiency or excess states of disease, found in oils, fortified grains, dark-green leafy vegetables, legumes, nuts, and small fishes.
166
What can excessive intake of vitamin E lead to?
It may augment the effects of anticoagulant medications, leading to purpura or hemorrhage.
167
What is a rare consequence of isolated vitamin E deficiency?
It can lead to ataxia, a severe spinocerebellar neurodegenerative disorder with autosomal recessive inheritance.
168
What is the effect of α-tocopherol transfer protein mutations?
It leads to the inability to transfer α-tocopherol from lysosomes into lipoproteins, resulting in oxidative stress in affected cells.
169
What are the classic clinical manifestations of vitamin D deficiency in rickets?
- Ca and P deficiency leads to poor calcification of new bones
- Fraying and widening of the metaphysis
- Rachitic rosary at costochondral junctions of the anterior ribs
- Craniotabes: Poor calcification and softening of skull bones
- Lateral bowing of the lower extremities
- Frontal bossing, widening of the wrists, scoliosis, hypotonia, fractures
- Dental defects
- Hypocalcemic seizures or tetany
170
What laboratory tests are indicators of vitamin D deficiency?
- Alkaline phosphatase levels
- Serum 25-hydroxyvitamin D levels
- Parathyroid hormone levels to compensate for deficiency
171
What is the recommended treatment for vitamin D deficiency?
1. Oral vitamin D repletion with dihydroxyvitamin D
2. Calcium-rich diet
3. 200 to 400 mcg vitamin D/day until resolution of symptoms (approx. 2 to 3 months)
4. Judicious sun exposure
172
What are the potential consequences of vitamin E deficiency?
- Rarely associated with deficiency, but can lead to ataxia
- Severe spinocerebellar neurodegenerative disorder with autosomal recessive inheritance
- Excessive intake may augment the effects of anticoagulant medications, leading to purpura/hemorrhage
173
What is the role of D-α-Tocopheryl polyethylene glycol-1000 succinate (TPGS) in vitamin D absorption?
TPGS is a water-soluble vitamin E that forms micelles at low concentrations, enhancing vitamin D absorption.
174
What are the clinical findings of Vitamin D deficiency?
Findings include poor bone calcification, rachitic rosary, craniotabes, bowing of lower extremities, dental defects, and hypocalcemic seizures.
175
If a patient presents with hypocalcemic seizures and rachitic rosary, what condition might they have?
Vitamin D deficiency.
176
If a patient has a ping-pong ball feel to their skull bones, what condition might they have?
Vitamin D deficiency (Craniotabes).
177
If a patient has a history of inadequate sun exposure and presents with lateral bowing of the lower extremities and frontal bossing, what condition might they have?
Vitamin D deficiency (Rickets).
178
If a patient has a history of chronic renal failure and presents with hypocalcemic seizures and dental defects, what condition might they have?
Vitamin D deficiency.
179
What are the steps in the treatment of Vitamin D deficiency?
1. Administer oral Vitamin D repletion with dihydroxyvitamin D in addition to a calcium-rich diet.
2. Provide 200 to 400 mcg of Vitamin D per day until symptoms resolve, approximately 2 to 3 months.
3. Encourage judicious sun exposure.
4. For hepatic rickets, use D-α-Tocopheryl polyethylene glycol-1000 succinate (TPGS) to enhance Vitamin D absorption.
5. Promote cutaneous synthesis of Vitamin D through UV radiation.
180
What are the steps in the clinical findings of Vitamin D deficiency?
1. Calcium and phosphorus deficiency lead to poor calcification of new bones.
2. Early signs include widening of the epiphyseal plate and blurring of the epiphyseal-metaphyseal junction.
3. Later signs include growth plate deformities, cortical spurs, and generalized osteopenia.
4. Manifestations include rachitic rosary, craniotabes, and lateral bowing of the lower extremities.
5. Severe cases may result in hypocalcemic seizures or tetany.
181
What are the steps in the treatment of Vitamin E deficiency?
1. Identify and address underlying causes such as malabsorption or dietary insufficiency.
2. Administer oral or intravenous Vitamin E supplementation.
3. Monitor for improvement in symptoms such as ataxia and neurodegenerative signs.
182
A 2-year-old child presents with bowing of the lower extremities, frontal bossing, and delayed growth. What is the likely diagnosis and treatment?
The likely diagnosis is vitamin D–deficient rickets. Treatment involves oral vitamin D supplementation (200 to 400 mcg/day) and a calcium-rich diet for 2 to 3 months.
183
A patient presents with hypocalcemic seizures, frontal bossing, and widening of the wrists. What is the diagnosis, and what is the treatment?
The diagnosis is vitamin D–deficient rickets. Treatment involves oral vitamin D supplementation (200 to 400 mcg/day) and a calcium-rich diet for 2 to 3 months.
184
A patient with chronic renal failure presents with hypocalcemia, poor bone calcification, and dental defects. What is the likely deficiency, and what is the treatment?
The likely deficiency is vitamin D. Treatment involves oral vitamin D supplementation and a calcium-rich diet.
185
What is the role of Vitamin K in the body?
Vitamin K is a cofactor in the carboxylation of glutamate residues on coagulation factors II, VII, IX, X, and proteins C and S.
186
What are the dietary sources of Vitamin K?
Green leafy vegetables, certain legumes, soybeans, cereals, and beef liver.
187
What is the clinical significance of Vitamin K deficiency in neonates?
It can lead to Hemorrhagic Disease of the Newborn (HDN), characterized by unexpected bleeding in the first week of life.
188
What are the laboratory tests used to diagnose Vitamin K deficiency?
Prothrombin time (PT), activated partial thromboplastin time (aPTT), and des-γ-carboxy prothrombin levels.
189
What is the treatment for severe Vitamin K deficiency?
Fresh-frozen plasma or parenteral/IM administration of 5 to 10 mg of Vitamin K per day.
190
What are the symptoms of Vitamin K deficiency in older children and adults?
Purpura, ecchymoses, gingival bleeding, and gastrointestinal, genitourinary, and retroperitoneal hemorrhage.
191
What can interfere with Vitamin K metabolism?
Medications such as anticonvulsants (phenytoin), rifampin, isoniazid, high-dose salicylates, cholestyramine, and cephalosporins.
192
What is the consequence of Vitamin C deficiency?
It causes scurvy, which presents with follicular hyperkeratosis, curled corkscrew hairs, and a bleeding diathesis.
193
What are the laboratory tests used to diagnose Vitamin K deficiency?
Laboratory tests for Vitamin K deficiency include Prothrombin Time (PT), activated Partial Thromboplastin Time (aPTT), and des-γ-carboxy prothrombin, which is a sensitive indicator of Vitamin K deficiency.
194
What are the treatment options for Vitamin K deficiency?
Treatment options for Vitamin K deficiency include neonatal prophylaxis with a single IM dose of 0.5 to 1.0 mg of Vitamin K, and for acute treatment, fresh-frozen plasma or parenteral/IM administration of 5 to 10 mg of Vitamin K per day to correct severe deficiency.
195
What are the potential causes of Vitamin K deficiency beyond the newborn period?
Causes of Vitamin K deficiency beyond the newborn period include malabsorption syndromes, liver disease, inadequate dietary intake, and medications that interfere with Vitamin K metabolism, such as anticonvulsants and antibiotics.
196
What are the clinical findings of Vitamin K deficiency?
Findings include impaired coagulation, hemorrhage, and in neonates, hemorrhagic disease of the newborn (HDN).
197
If a neonate presents with unexpected bleeding in the first week of life, including cephalohematomas and nasal hemorrhages, what condition might they have?
Vitamin K deficiency (Early Hemorrhagic Disease of the Newborn)
198
If a patient presents with follicular hyperkeratosis, curled corkscrew hairs, and a bleeding diathesis, what condition might they have?
Vitamin C deficiency (Scurvy)
199
If a patient presents with a history of chronic anticonvulsant use and symptoms of gingival bleeding, purpura, and prolonged PT, what condition might they have?
Vitamin K deficiency
200
What are the steps in the treatment of Vitamin K deficiency?
1. For neonatal prophylaxis, administer a single IM dose of 0.5 to 1.0 mg Vitamin K.
2. For acute treatment, use fresh-frozen plasma to replace deficient coagulation factors.
3. Administer parenteral or IM Vitamin K at 5 to 10 mg per day to correct severe deficiency.
201
What are the steps in the treatment of Vitamin K deficiency in older children and adults?
1. Administer fresh-frozen plasma to replace deficient coagulation factors.
2. Provide parenteral or IM Vitamin K at 5 to 10 mg per day.
3. Address underlying causes such as malabsorption, liver disease, or medication interference.
202
A 6-month-old infant presents with unexpected bleeding, including nasal and umbilical hemorrhages. The infant is primarily breastfed and did not receive neonatal vitamin K prophylaxis. What is the likely diagnosis and treatment?
The likely diagnosis is late Hemorrhagic Disease of the Newborn (HDN) due to vitamin K deficiency. Treatment involves administering 5 to 10 mg of vitamin K intramuscularly or parenterally per day to correct the deficiency.
203
A neonate presents with follicular hyperkeratosis, curled corkscrew hairs, and bleeding gums. The mother reports a diet low in fruits and vegetables during pregnancy. What is the likely deficiency, and what is the treatment?
The likely deficiency is vitamin C deficiency (scurvy). Treatment involves vitamin C supplementation to resolve symptoms.
204
A neonate presents with unexpected bleeding, including cephalohematomas and intracranial hemorrhages. The neonate did not receive vitamin K prophylaxis. What is the diagnosis, and what is the treatment?
The diagnosis is early Hemorrhagic Disease of the Newborn (HDN) due to vitamin K deficiency. Treatment involves administering 0.5 to 1.0 mg of vitamin K intramuscularly.
205
A patient presents with follicular hyperkeratosis, curled corkscrew hairs, and bleeding gums. The patient has a history of poor dietary intake of fruits and vegetables. What is the diagnosis, and what is the treatment?
The diagnosis is vitamin C deficiency (scurvy). Treatment involves vitamin C supplementation to resolve symptoms.
206
A neonate presents with cephalohematomas and umbilical bleeding. Laboratory tests show prolonged PT and aPTT. What is the diagnosis, and what is the treatment?
The diagnosis is vitamin K deficiency leading to Hemorrhagic Disease of the Newborn (HDN). Treatment involves administering 0.5 to 1.0 mg of vitamin K intramuscularly.
207
What is the role of thiamine in the body?
Thiamine is an essential coenzyme for enzymes involved in carbohydrate metabolism, deoxyribose and ribose synthesis, and the pentose phosphate pathway.
208
What are the early signs of thiamine deficiency?
Early signs include irritability, apathy, restlessness, and vomiting.
209
What are the late signs of thiamine deficiency?
Late signs include Wernicke encephalopathy, laryngeal nerve paralysis, congestive heart failure, tachycardia, dyspnea, and cyanosis.
210
What are the two types of adult beriberi?
1. Dry beriberi - symmetric distal peripheral neuropathy.
2. Wet beriberi - neuropathy and cardiac involvement.
211
What dietary factors predispose individuals to thiamine deficiency?
Predisposing factors include unsupplemented parenteral nutrition, breastfed infants of thiamine-deficient mothers, chronic alcoholism, and polished rice consumption.
212
What is the recommended daily thiamine requirement?
0.5 mg per 1000 kcal of total caloric intake.
213
What is the treatment for thiamine deficiency?
Treatment is initiated with IV or IM thiamine of 50 to 100 mg/day for 7 to 14 days, followed by oral supplementation until full recovery.
214
What laboratory test is used to assess thiamine status?
Erythrocyte thiamine transketolase or blood thiamine concentration is used to assess thiamine status.
215
What is the significance of thiamine pyrophosphate in metabolism?
Thiamine pyrophosphate is a coenzyme in pyruvate dehydrogenase and α-ketoglutarate dehydrogenase, involved in oxidative decarboxylation reactions.
216
What are the clinical findings of thiamine (Vitamin B1) deficiency?
Early signs include irritability and vomiting. Late signs include Wernicke encephalopathy, beriberi (dry and wet forms), and cardiac involvement like cardiomegaly and tachycardia.
217
If a patient has a red, burning tongue and peripheral edema, what condition might they have?
Thiamine deficiency (Wet beriberi)
218
If a patient has a history of polished rice consumption and presents with symmetric distal peripheral neuropathy, what condition might they have?
Thiamine deficiency (Dry beriberi)
219
If a patient has a history of chronic alcoholism and presents with ataxia, nystagmus, and ophthalmoplegia, what condition might they have?
Thiamine deficiency (Wernicke encephalopathy)
220
If a patient has a history of polished rice consumption and presents with cardiomegaly, tachycardia, and peripheral edema, what condition might they have?
Thiamine deficiency (Wet beriberi)
221
What are the steps in the treatment of thiamine deficiency?
1. Initiate treatment with IV or IM thiamine at 50 to 100 mg per day for 7 to 14 days.
2. Transition to oral supplementation until full recovery.
3. Calculate daily thiamine requirements based on the individual's ideal total caloric intake, with a recommendation of 0.5 mg per 1000 kcal.
222
A patient with a history of chronic alcoholism presents with irritability, ataxia, and nystagmus. What is the likely deficiency, and what treatment should be initiated?
The likely deficiency is thiamine (vitamin B1) deficiency, presenting as Wernicke encephalopathy. Treatment involves initiating intravenous or intramuscular thiamine at 50 to 100 mg/day for 7 to 14 days, followed by oral supplementation.
223
What is riboflavin and its role in the body?
Riboflavin is a fluorescent yellow-green substance found in milk, used in oxidation-reduction reactions in cellular respiration and oxidative phosphorylation.
224
What are the clinical findings associated with acute riboflavin deficiency?
Acute riboflavin deficiency can cause deep-red erythema, epidermal necrolysis, and mucositis.
225
What dietary sources are rich in riboflavin?
Dairy products, nuts, meat, eggs, whole grain and enriched bread products, fatty fish, and green leafy vegetables are rich in riboflavin.
226
What are the common symptoms of chronic riboflavin deficiency?
Chronic riboflavin deficiency can lead to angular stomatitis, cheilosis, xerosis, fissuring of lips, and early glossitis.
227
What is the recommended daily value of riboflavin for deficient adults?
The recommended daily value for deficient adults is 10 to 20 mg per day.
228
What factors can contribute to riboflavin deficiency?
Factors include decreased intake, inadequate absorption, phototherapy, and certain medications like chlorpromazine.
229
What is the significance of the Oculo-orogenital syndrome in riboflavin deficiency?
Oculo-orogenital syndrome describes a constellation of symptoms including ocular findings like photophobia and conjunctivitis associated with riboflavin deficiency.
230
What laboratory tests can be used to confirm riboflavin deficiency?
Laboratory tests include checking for normochromic, normocytic anemia and erythrocyte glutathione reductase activity as a screening test.
231
What is the impact of PEM on riboflavin deficiency?
Protein Energy Malnutrition (PEM) can worsen riboflavin deficiency due to impaired renal compensatory mechanisms of increased riboflavin absorption.
232
What are the forms of dietary riboflavin and their absorption mechanisms?
| Form of Riboflavin | Description |
|-------------------|-------------|
| Free riboflavin | Found in small amount in the intestinal lumen, taken up by active transport in the proximal small bowel |
| Flavin-adenine dinucleotide (FAD) | Most riboflavin is found as FAD or flavin mononucleotide, hydrolyzed to riboflavin by brush-border membranes or enterocytes |
233
What are the risk factors for riboflavin deficiency?
- Alcoholism
- Elderly individuals
- Adolescents
- Gastric bypass surgery
- Dependence on unenriched cereal diet in endemic areas (e.g., India, China, Iran)
- Infants of riboflavin-deficient mothers
- Protein Energy Malnutrition (PEM)
- Certain medications (e.g., chlorpromazine, tricyclic drugs)
234
What are the factors for riboflavin deficiency?
Factors include alcoholism, elderly individuals, adolescents, gastric bypass surgery, dependence on unenriched cereal diet in endemic areas, infants of riboflavin-deficient mothers, protein energy malnutrition (PEM), and certain medications.
235
What is the recommended daily value of riboflavin for deficient adults?
10 to 20 mg per day
236
What are the clinical findings of riboflavin (Vitamin B2) deficiency?
Findings include angular stomatitis, cheilosis, glossitis, dermatitis resembling seborrheic dermatitis, and ocular symptoms like photophobia.
237
If a patient has angular stomatitis, cheilosis, and a magenta-colored tongue, what condition might they have?
Riboflavin deficiency
238
If a patient presents with a magenta-colored tongue, angular stomatitis, and seborrheic dermatitis-like lesions, what condition might they have?
Riboflavin deficiency
239
If a patient presents with a smooth, swollen tongue and dermatitis involving the nasolabial folds, what condition might they have?
Riboflavin deficiency
240
If a patient has a history of chronic alcoholism and presents with normochromic, normocytic anemia and photophobia, what condition might they have?
Riboflavin deficiency
241
What are the steps in the treatment of riboflavin deficiency?
1. Administer 1 to 3 mg per day for deficient infants and children.
2. Provide 10 to 20 mg per day for deficient adults.
3. Ensure dietary intake of riboflavin-rich foods such as dairy products, nuts, and green leafy vegetables.
242
A child presents with angular stomatitis, cheilosis, and a magenta-colored tongue. The child’s diet is primarily cereal-based. What is the likely deficiency, and how should it be treated?
The likely deficiency is riboflavin (vitamin B2) deficiency. Treatment involves supplementation with 1 to 3 mg per day for children or 10 to 20 mg per day for adults.
243
A patient presents with angular cheilitis, a magenta-colored tongue, and seborrheic dermatitis-like lesions on the nasolabial folds. What is the likely deficiency, and what are the risk factors?
The likely deficiency is riboflavin (vitamin B2) deficiency. Risk factors include poor nutritional intake, gastric bypass surgery, and phototherapy in neonates.
244
A patient presents with photophobia, conjunctivitis, and dermatitis involving the nasolabial folds and genitalia. The patient has a history of poor nutritional intake. What is the likely deficiency, and what is the associated syndrome?
The likely deficiency is riboflavin (vitamin B2) deficiency, associated with oculo-orogenital syndrome.
245
What condition is associated with pseudotumor cerebri?
Nonadapted starvation
246
What does cracked or 'crazy' pavement indicate?
Vitamin A Deficiency
247
What symptoms are associated with ophthalmoplegia, ataxia, and nystagmus?
Vitamin A Deficiency
248
What syndrome is characterized by Oculo-orogenital symptoms?
Vitamin A Deficiency
249
What is the risk associated with active Mycobacterium tuberculosis infection?
Nonadapted starvation
250
What condition is linked to suppressed insulin production?
Nonadapted starvation
251
What is Phrynoderma a sign of?
Vitamin A Deficiency
252
What does abdominal distention from fatty infiltration of the liver indicate?
Thiamine Deficiency
253
What is the clinical significance of abdominal distention from fatty infiltration of the liver?
Abdominal distention from fatty infiltration of the liver is associated with Thiamine deficiency.
254
If a patient presents with pseudotumor cerebri, what condition might they have?
Vitamin A toxicity
255
If a patient has cracked or 'crazy' pavement skin, what condition might they have?
Nonadapted starvation
256
If a patient has increased Breslow thickness, what condition might they have?
Vitamin D deficiency
257
If a patient exhibits ophthalmoplegia, ataxia, and nystagmus, what condition might they have?
Thiamine deficiency
258
If a patient has Oculo-orogenital syndrome, what condition might they have?
Riboflavin deficiency
259
If a patient is at risk of active Mycobacterium tuberculosis infection, what condition might they have?
Vitamin D deficiency
260
If a patient has suppressed insulin production, what condition might they have?
Adapted starvation
261
If a patient has Phrynoderma, what condition might they have?
Vitamin A deficiency
262
If a patient has abdominal distention from fatty infiltration of the liver, what condition might they have?
Nonadapted starvation
263
What are the four clinical findings associated with Pellagra due to Vitamin B3 (Niacin) deficiency?
The four clinical findings associated with Pellagra are dermatitis, diarrhea, dementia, and death.
264
What is the recommended daily value of Niacin for adults?
The recommended daily value of Niacin for adults is 15 to 20 mg of niacin, or approximately 60 mg of exogenous tryptophan.
265
What are the common laboratory tests used to diagnose Niacin deficiency?
Common laboratory tests for diagnosing Niacin deficiency include urinary metabolites of niacin and histologic examination showing depletion of Langerhans cells.
266
What treatment is recommended for Niacin deficiency and Pellagra?
The recommended treatment includes 500 mg per day of nicotinamide or nicotinic acid given over several weeks. Nicotinamide is preferred due to fewer side effects.
267
A patient presents with dermatitis, diarrhea, and dementia. What is the classic name for this condition, and what vitamin deficiency causes it?
The condition is Pellagra, caused by Vitamin B3 (Niacin) deficiency.
268
A patient presents with painful fissures on the palms and soles resembling goose skin. What vitamin deficiency is likely responsible?
Vitamin B3 (Niacin) deficiency, as seen in Pellagra.
269
What dietary sources are rich in Vitamin B3 (Niacin)?
Whole grains, enriched bread products, nuts, dairy products, liver, animal meat, mushrooms, and dried beans.
270
What is the primary deficiency condition associated with Vitamin B3 (Niacin)?
Pellagra.
271
What are the common skin manifestations of Pellagra?
Painful, erythematous, pruritic patches, vesicles, bullae, and thickened, hyperpigmented plaques.
272
What are some neurological symptoms associated with Niacin deficiency?
Insomnia and fatigue.
273
What is the significance of tryptophan in relation to Niacin?
Tryptophan is an essential amino acid that can be synthesized endogenously into Niacin.
274
A patient with carcinoid syndrome has increased serotonin production. Why might this patient develop Pellagra?
In carcinoid syndrome, excessive tryptophan is converted to serotonin, leaving less tryptophan available for niacin synthesis.
275
A patient on isoniazid therapy develops symptoms of Pellagra. What is the mechanism behind this?
Isoniazid is a competitive inhibitor of NAD and impairs pyridoxine functioning, which is essential for niacin synthesis from tryptophan.
276
What are the conditions that can lead to impaired absorption of tryptophan and niacin, resulting in pellagra-like symptoms?
Conditions include jejunoileitis, gastroenterostomy, prolonged diarrhea, chronic colitis, cirrhosis, Crohn disease, and Hartnup disease.
277
How does carcinoid syndrome affect tryptophan metabolism and its relation to niacin production?
In carcinoid syndrome, excessive tryptophan is converted to serotonin, resulting in less tryptophan available for niacin production.
278
What medications can induce symptoms of pellagra and how do they affect niacin synthesis?
Medications include Isoniazid, 5-Fluorouracil, 6-mercaptopurine, and phenytoin.
279
What are the clinical manifestations of Pellagra?
Clinical manifestations include dermatitis, diarrhea, dementia, and psychosis.
280
A patient with a history of Hartnup disease develops Pellagra-like symptoms. What is the underlying mechanism?
Hartnup disease involves a defect in the neutral brush-border system, leading to malabsorption of tryptophan.
281
A patient with chronic colitis presents with symptoms of Pellagra. What is the underlying mechanism?
Chronic colitis can impair the absorption of tryptophan and niacin, leading to Pellagra.
282
What is Hartnup disease and its relation to pellagra?
Hartnup disease is a rare autosomal recessive disorder that results in malabsorption of amino acids, including tryptophan.
283
How do alcoholics develop pellagra?
Alcoholics develop pellagra from a combination of poor diet and malabsorption.
284
What dietary habits can lead to pellagra?
Overly restrictive diets, such as those from eating disorders or food faddism, can lead to pellagra.
285
What is the effect of carcinoid syndrome on tryptophan metabolism?
In carcinoid syndrome, excessive tryptophan is converted to serotonin, resulting in less tryptophan available to make niacin.
286
What are some neurological signs associated with Vitamin B6 deficiency?
Somnolence, peripheral neuropathy, paresthesias, weakness, and confusion.
287
What can happen without treatment for niacin deficiency?
Without treatment, death from multiorgan failure can occur.
288
A patient presents with a red, painful tongue, angular stomatitis, and cheilitis. What vitamin deficiency could cause these symptoms?
Vitamin B6 (Pyridoxine) deficiency.
289
What are the three interchangeable molecules of Vitamin B6?
The three interchangeable molecules of Vitamin B6 are pyridoxine, pyridoxamine, and pyridoxal.
290
What are the clinical findings associated with Vitamin B6 deficiency?
Clinical findings include seborrheic-like dermatitis, photodermatitis, glossitis, and cheilitis.
291
How is Vitamin B6 deficiency diagnosed?
Vitamin B6 deficiency is diagnosed by evaluating the mean measurement of plasma pyridoxal-5-phosphate.
292
What is the recommended daily value of Vitamin B6 for adult males and females?
The recommended daily values are at least 2 mg for adult males and at least 1.6 mg for adult females.
293
What is the treatment protocol for Vitamin B6 deficiency?
The treatment protocol includes discontinuation of inciting medication and initiating replacement therapy of 100 mg of pyridoxine per day.
294
A patient presents with seborrheic-like dermatitis, glossitis, and cheilitis. What vitamin deficiency should be suspected?
Vitamin B6 (Pyridoxine) deficiency.
295
What are the best dietary sources of Vitamin B6?
Meats, whole grains, vegetables, and nuts.
296
What is the most common form of Vitamin B6 in the body?
Pyridoxal-5-phosphate.
297
What laboratory test is used to evaluate Vitamin B6 levels?
Mean measurement of plasma pyridoxal-5-phosphate.
298
What is the recommended daily intake of Vitamin B6 for adult males?
At least 2 mg per day.
299
What is the treatment for Vitamin B6 deficiency?
Discontinuation of inciting medication and initiating replacement therapy of 100 mg of pyridoxine per day.
300
What can cause Vitamin B6 deficiency?
Malabsorption, medication-induced deficiency, and inadequate dietary intake.
301
What is a potential consequence of excessive Vitamin B6 intake?
Peripheral neuropathy.
302
A patient with a history of celiac disease presents with macrocytic anemia, glossitis, and angular cheilitis. What vitamin deficiency should be suspected?
Vitamin B9 (Folate) deficiency.
303
What are the primary clinical findings associated with Vitamin B9 (Folate) deficiency?
Hematologic manifestations, mucocutaneous findings, and other symptoms like diarrhea and irritability.
304
What is the recommended treatment for Vitamin B9 (Folate) deficiency?
Folic acid supplementation is typically curative, and discontinuation of antifoilate agents is recommended if involved.
305
What are the clinical findings associated with Vitamin B12 (Cobalamin) deficiency?
Mucocutaneous manifestations include glossitis and angular cheilitis, along with hematologic findings like macrocytic anemia.
306
What laboratory tests are used to confirm Vitamin B12 deficiency?
Hematologic findings similar to folate deficiency and bone marrow biopsy.
307
What are the hematologic findings associated with Vitamin B12 deficiency?
Macrocytic anemia and hypersegmented neutrophils.
308
What does a bone marrow biopsy show in Vitamin B12 deficiency?
Hypercellular marrow secondary to disordered maturation.
309
What laboratory tests confirm Vitamin B12 deficiency?
Serum cobalamin <200 pg/mL = definite B12 deficiency.
310
What is the treatment approach for Vitamin B12 deficiency?
Treating the cause of deficiency and supplementing with vitamin B12.
311
What is the likely vitamin deficiency in a patient with a history of alcohol use disorder presenting with macrocytic anemia?
Vitamin B9 (Folate) deficiency.
312
What two vitamin deficiencies should be considered in a patient with hypersegmented neutrophils and macrocytic anemia?
Vitamin B9 (Folate) and Vitamin B12 (Cobalamin) deficiencies.
313
What vitamin deficiency is likely in a patient with a history of methotrexate use presenting with macrocytic anemia?
Vitamin B9 (Folate) deficiency.
314
What is the likely diagnosis for a patient with chronic diarrhea and diffuse brown hyperpigmentation?
Vitamin B9 (Folate) deficiency.
315
What are the primary dietary sources of Vitamin B9 (Folate)?
Liver, wheat, bran, other grains, leafy green vegetables, and dried beans.
316
What is the primary hematologic manifestation of Vitamin B12 deficiency?
Macrocytic anemia with hypersegmented neutrophils.
317
What are common clinical findings associated with Folate deficiency?
Hypersegmented neutrophils, macrocytosis, megaloblastic anemia, and mucocutaneous findings like glossitis and angular cheilitis.
318
What is the recommended treatment for Folate deficiency?
Folic acid supplementation, typically 1 to 5 mg per day.
319
What is a crucial step before initiating treatment for Folate deficiency?
Ruling out concurrent Vitamin B12 deficiency.
320
What are the dietary sources of Vitamin B12?
Animal products, particularly liver, eggs, milk, beef, and organ meats.
321
What are the mucocutaneous manifestations of Vitamin B12 deficiency?
Glossitis, angular cheilitis, and hair depigmentation.
322
What laboratory test confirms Vitamin B12 deficiency?
Serum cobalamin levels less than 200 pg/mL.
323
What is the treatment for Vitamin B12 deficiency?
Treatment depends on the cause of deficiency and may include oral or parenteral supplementation.
324
What vitamin deficiency is likely in a vegetarian patient with atrophic glossitis, hyperpigmentation, and macrocytic anemia?
Vitamin B12 (Cobalamin) deficiency.
325
What is the underlying cause of neurologic symptoms in a patient with pernicious anemia?
Vitamin B12 (Cobalamin) deficiency, leading to subacute combined degeneration of the dorsal and lateral spinal columns.
326
What are the primary causes of vitamin B12 deficiency?
Inadequate intake, malabsorption, and inborn errors of transport or metabolism.
327
What are the clinical findings associated with vitamin B12 deficiency?
Hyperpigmentation, neurological symptoms, and early neurologic findings may present before hematologic signs.
328
What is the recommended treatment for vitamin B12 deficiency?
Initial supplementation of 1 mg of cyanocobalamin per week for 1 month.
329
What is the significance of a vitamin B12 level between 200 to 300 pg/mL?
It is considered borderline low.
330
What is a potential consequence of untreated vitamin B12 deficiency?
Subacute combined degeneration of the dorsal and lateral spinal column.
331
What is the primary cause of scurvy?
Insufficient vitamin C intake.
332
What are the earliest cutaneous signs of scurvy?
Phrynoderma, characterized by enlargement and keratosis of hair follicles.
333
What are some oral manifestations of scurvy?
Gingival disease, including swelling, ecchymoses, bleeding, and loosening of teeth.
334
What is the recommended daily intake of ascorbic acid to prevent scurvy?
40 to 60 mg.
335
What is the leukocyte ascorbate level that indicates vitamin C deficiency?
Less than 75 mg/L.
336
What are some common clinical manifestations of scurvy?
Weakness, fatigue, emotional lability, weight loss, arthralgias, hypotension, anorexia, and diarrhea.
337
What is the therapeutic dose of ascorbic acid for treating scurvy?
100 to 300 mg of ascorbic acid daily until symptoms completely resolve.
338
What are the 4 Hs of scurvy?
Hemorrhagic signs, hyperkeratosis of hair follicles, hypochondriasis, and hemolytic anemia.
339
What role does ascorbic acid play in collagen synthesis?
It is required for the hydroxylation of proline residues on procollagen.
340
What are the radiographic signs associated with scurvy?
Pelkan sign, Wimberger sign, white line of Frankl, and scurvy line.
341
What is the impact of impaired collagen synthesis in scurvy?
It leads to unstable collagen fibrils, resulting in pathology in skin, mucous membranes, blood vessels, and bone.
342
What deficiency should be considered in a patient on long-term parenteral nutrition without supplementation?
Biotin deficiency.
343
What are the common dietary sources of biotin?
Eggs, liver, milk, peanuts, mushrooms, chocolates, and hazelnuts.
344
What are the clinical findings associated with biotin deficiency?
Erythematous, scaling dermatitis, alopecia, conjunctivitis, glossitis, irritability, lethargy, and paresthesias.
345
What are common dietary sources of biotin?
Eggs, liver, milk, peanuts, mushrooms, chocolates, and hazelnuts.
346
What are the clinical findings associated with biotin deficiency?
Clinical findings include cutaneous manifestations such as erythematous, scaling, and crusting dermatitis, alopecia, conjunctivitis, and glossitis; neurologic findings like irritability, lethargy, paresthesias, hypotonia, developmental delay, and myalgias; and other symptoms including nausea and anorexia.
347
What laboratory tests are helpful in diagnosing biotin deficiency?
Laboratory tests suggestive of biotin deficiency include biotinidase levels, serum amino acids, urine organic acids, carnitine studies, and ammonia.
348
What is the recommended daily value of biotin for adults?
100 to 200 mcg.
349
What is the recommended daily value of biotin for neonates?
30 mcg.
350
What is the treatment for acquired biotin deficiency?
150 mcg of biotin per day until resolution of symptoms.
351
How is holocarboxylase synthetase deficiency treated?
10 to 40 mg of biotin per day to reverse cutaneous symptoms, although neurologic deficits may persist.
352
What deficiency should be considered for a patient on long-term antibiotics who develops erythematous, scaling dermatitis around the eyes and mouth?
Biotin deficiency.
353
What deficiency should be considered for a patient on long-term parenteral nutrition without biotin supplementation who develops alopecia and conjunctivitis?
Biotin deficiency.
354
What is the likely diagnosis and underlying cause for an infant with bright red scaling dermatosis and patchy alopecia?
Neonatal (early onset) biotin deficiency due to a defect in holocarboxylase synthetase.
355
What is biotin essential for in the body?
It is an essential cofactor for four carboxylating enzymes involved in fatty acid synthesis, gluconeogenesis, amino acid catabolism, and other metabolic processes.
356
What condition can result from long-term parenteral nutrition without biotin supplementation?
Biotin deficiency.
357
What are some symptoms of biotin deficiency?
Symptoms include cutaneous manifestations like dermatitis, alopecia, conjunctivitis, glossitis, irritability, lethargy, paresthesias, hypotonia, developmental delay, and myalgias.
358
What is the neonatal form of biotin deficiency associated with?
A defect in holocarboxylase synthetase, leading to severe symptoms within the first 6 weeks of life.
359
What laboratory tests can help diagnose biotin deficiency?
Biotinidase levels, serum amino acids, urine organic acids, carnitine studies, and ammonia levels.
360
What is the treatment for holocarboxylase synthetase deficiency?
10 to 40 mg of biotin per day to reverse cutaneous symptoms, although neurologic deficits may persist.
361
What is the treatment for biotinidase deficiency?
5 to 10 mg of biotin, which has better clinical outcomes than holocarboxylase synthetase deficiency treatment.
362
What is the likely diagnosis and underlying cause for a child presenting with scaly, erythematous periorificial dermatitis, alopecia, and conjunctivitis?
Biotinidase deficiency, a juvenile form of biotin deficiency.
363
What are the common neurologic findings associated with biotin deficiency in infants?
Common neurologic findings include difficulty feeding and breathing, hypotonia, ataxia, seizures, lethargy, and global developmental delay.
364
What are the associated metabolic derangements in biotin deficiency?
Associated metabolic derangements include metabolic acidosis, mild-to-moderate hyperammonemia, lactic acidosis, ketoacidosis, and organic aciduria. These conditions can be exacerbated by intercurrent illness.
365
What is the treatment for biotinidase deficiency in children?
The treatment involves large supplemental doses of biotin.
366
What are the clinical manifestations of biotinidase deficiency in children?
Clinical manifestations include scaly, erythematous periorificial dermatitis, severe cases may show lichenification, crusting, and eroded lesions, infection by Candida, keratoconjunctivitis, and total alopecia (including eyebrows and eyelashes).
367
What are the neurologic findings in juvenile biotin deficiency?
Neurologic findings in juvenile biotin deficiency include ataxia, developmental delay, hypotonia, seizures, optic nerve atrophy, hearing loss, myoclonic spasms, and hypertonia does not rule out this deficiency.
368
What is the likely diagnosis for an infant with alopecia, conjunctivitis, and developmental delay?
Biotinidase deficiency, a juvenile form of biotin deficiency.
369
What is the likely diagnosis for a child with erythematous, scaling periorificial dermatitis and developmental delay?
Biotinidase deficiency, a juvenile form of biotin deficiency.
370
What are common neurologic findings in biotin deficiency cases?
Common neurologic findings include difficulty feeding and breathing, hypotonia, ataxia, seizures, lethargy, and global developmental delay.
371
What metabolic derangements are associated with biotin deficiency?
Metabolic derangements include metabolic acidosis, mild-to-moderate hyperammonemia, lactic acidosis, ketoacidosis, and organic aciduria.
372
What causes juvenile biotin deficiency?
Juvenile biotin deficiency is caused by biotinidase deficiency.
373
What are the treatment options for biotinidase deficiency?
Large supplemental doses of biotin.
374
What skin condition do children with biotinidase deficiency present with?
Scaly, erythematous periorificial dermatitis.
375
What severe skin conditions can occur in biotin deficiency?
Severe skin conditions include lichenification, crusting, and eroded lesions that may become infected by Candida.
376
What are some associated mucocutaneous findings in biotin deficiency?
Associated mucocutaneous findings include keratoconjunctivitis, total alopecia, and glossitis.
377
What is the age of onset for juvenile biotin deficiency?
After 3 months of age.
378
What are the implications of early diagnosis in metabolic encephalopathy?
Metabolic encephalopathy is preventable with early diagnosis; however, it becomes irreversible once present. If appropriate therapy is initiated, it can be reversible.
379
What metabolic conditions are associated with metabolic encephalopathy?
Metabolic encephalopathy is associated with metabolic acidosis, lactic acidosis, and organic aciduria.
380
How do humoral and cellular immunodeficiencies affect health in relation to metabolic conditions?
Humoral and cellular immunodeficiencies can predispose individuals to cutaneous and systemic infections, complicating the clinical picture of metabolic conditions.
381
What are the clinical findings associated with copper deficiency?
Clinical findings include hypopigmentation of hair and skin, bony abnormalities such as osteoporosis and fractures, periosteal reaction, copper deficiency myeloneuropathy, and optic nerve involvement if untreated.
382
What are the laboratory tests indicative of copper deficiency?
Laboratory tests include microcytic anemia, neutropenia, hypocupremia, and hypoceruloplasminemia.
383
What is Menkes disease and its associated symptoms?
Menkes disease, also known as kinky hair disease, is a multifocal degenerative disease of gray matter. Symptoms begin at 2 to 3 months of age and include loss of developmental milestones and hypotonia.
384
What is the treatment for copper deficiency?
Supplemental copper in the diet to address deficiency; for Menkes disease, early treatment with copper histidinate can lead to good outcomes.
385
What are common dietary sources of copper?
Common dietary sources include fish, oysters, whole grains, beef and pork liver, chocolate, eggs, and raisins.
386
What can cause copper deficiency?
Causes include malnutrition, malabsorptive states, chronic unsupplemented parenteral nutrition, and excessive intake of antacids, zinc, iron, or vitamin C.
387
What are the signs of Menkes disease?
Signs include loss of developmental milestones and hypotonia beginning at 2 to 3 months of age.
388
How is Menkes disease diagnosed?
Diagnosis is made through clinical history and physical examination.
389
What are the characteristic facial features associated with Menkes disease?
Characteristic facial features include a cherubic appearance with a depressed nasal bridge, ptosis, and reduced facial movements.
390
What are common hair structural changes observed in patients with Menkes disease?
Common hair structural changes include short, sparse, lusterless, tangled, and depigmented hair, with eyebrows having the same steel wool appearance.
391
What are the neonatal indicators of Menkes disease?
Neonatal indicators include preterm labor, large cephalohematomas, hypothermia, hypoglycemia, and jaundice.
392
What are the major neurologic deficits associated with Menkes disease?
Major neurologic deficits include profound truncal hypotonia, poor head control, increased appendicular tone, hyperactive deep tendon reflexes, pale optic disks, and developmental arrest.
393
What is the incidence of Menkes disease in live births?
The incidence is estimated to be from 1 in 100,000 to 1 in 250,000 live births.
394
What are the implications of reduced serum ceruloplasmin and copper levels in Menkes disease?
Reduced levels indicate impaired copper metabolism, critical for various enzymatic functions, leading to severe clinical manifestations.
395
What are the clinical findings associated with selenium deficiency?
Clinical findings include Keshan disease, acute or chronic insufficiency of cardiac function, muscle pain, weakness with hepatic congestion, and erythrocyte macrocytosis without anemia.
396
What is Keshan disease and its association with selenium deficiency?
Keshan disease is a disorder attributed to selenium deficiency, characterized by multifocal myocarditis and fatal cardiomyopathy, particularly in women and young children.
397
What are some clinical findings associated with selenium deficiency?
Findings include cardiomegaly, arrhythmias, ECG abnormalities, muscle pain, and weakness with hepatic congestion.
398
What laboratory tests are used to diagnose selenium deficiency?
Diagnosis includes plasma selenium levels and glutathione peroxidase activity.
399
What is the treatment protocol for selenium deficiency?
The treatment involves selenium supplementation for both acute correction and long-term maintenance.
400
What are the epidemiological factors contributing to selenium deficiency?
Factors include geographic areas with low soil selenium, restricted protein diets, unsupplemented parenteral nutrition, malabsorption states, and increased losses.
401
What are the skeletal manifestations of selenium deficiency?
Increased risk for bone fractures, subdural hematomas, and various bone deformities.
402
What are the cutaneous findings associated with selenium deficiency?
Cutaneous findings include white nail beds, hypopigmentation of skin and hair, and Keshin-Beck disease.
403
What are the symptoms of selenium toxicity?
Symptoms include dry and brittle hair, brittle nails with white horizontal streaking, red swollen skin, neurologic complaints, and gastrointestinal symptoms.
404
What is the clinical significance of selenium deficiency in humans?
Selenium deficiency can lead to pancreatic exocrine dysfunction and Keshin-Beck disease, affecting joint and cartilage health.
405
What are the recommended actions for managing selenium excess?
Recommended actions include screening of plasma to evaluate selenium levels, removal of the source of excess selenium, and supportive care for complications.
406
What deficiency should be suspected in a patient with koilonychia, angular stomatitis, and glossodynia?
Iron deficiency.
407
What is the likely diagnosis for a patient with chronic GI bleeding presenting with microcytic anemia and brittle nails?
Iron deficiency anemia.
408
What are the clinical manifestations of manganese deficiency?
Clinical manifestations include mild dermatitis, reddish discoloration of black hair, slowed hair and nail growth, and occasional nausea and vomiting.
409
What are the high-risk groups for iron deficiency?
High-risk groups include infants, especially those on iron-fortified formulas.
410
GI bleeding presents with microcytic anemia and brittle nails. What is the likely diagnosis?
Iron deficiency anemia.
411
What are the clinical manifestations of manganese deficiency?
Clinical manifestations of manganese deficiency include:
- Mild dermatitis
- Reddish discoloration of black hair
- Slowed hair and nail growth
- Occasional nausea and vomiting with moderate weight loss
- Miliaria crystallina in some subjects, which disappears after repletion
412
What are the high-risk groups for iron deficiency?
High-risk groups for iron deficiency include:
1. Infants, especially those on iron-fortified formula transitioning to cow's milk
2. Menstruating females
3. Individuals with chronic gastrointestinal bleeding
413
What are the skin and hair changes associated with iron deficiency?
Skin and hair changes associated with iron deficiency include:
- Skin changes: fragile, longitudinally ridged, lamellated, or brittle nails
- Hair changes: lusterless, brittle, dry, and focally narrow or split hair shafts
- Koilonychia (spoon-shaped nails)
414
What are the clinical findings associated with iron excess?
Clinical findings associated with iron excess (hemochromatosis) include:
- Skin changes: hyperpigmentation, ichthyosis-like changes
- Associated findings: cirrhosis of the liver, diabetes mellitus, cardiomyopathy
415
What is the significance of koilonychia in iron deficiency?
Koilonychia is a significant clinical finding in iron deficiency, characterized by:
- Thinning and flattening of the nail plate
- Spoon-shaped convexity of the nails
- Usually affects the index and third fingernails most severely
- Resolves slowly after iron replacement therapy begins
416
A patient presents with koilonychia, angular stomatitis, and glossodynia. What is the likely deficiency?
Iron deficiency.
417
What are the biological pathways that iron is used in?
Iron is used in heme synthesis, oxidation-reduction reactions, collagen synthesis, and as a cofactor for enzymes such as succinic dehydrogenase, monoamine oxidase, and glycerophosphate oxidase.
418
What are common dietary sources of iron?
Red meats, egg yolks, dried beans, nuts, dried fruits, green leafy vegetables, and enriched grain products.
419
What skin changes are associated with moderate iron deficiency?
Skin changes include fragile, longitudinally ridged, lamellated, or brittle nails.
420
What is koilonychia and how is it related to iron deficiency?
Koilonychia is a spoon-shaped convexity of the nail plate that occurs as iron deficiency progresses.
421
What are some mucous membrane changes associated with iron deficiency?
Mucous membrane changes include aphthous stomatitis, angular stomatitis, glossodynia, and absent or atrophied tongue papillae.
422
What is Plummer-Vinson syndrome?
Plummer-Vinson syndrome is an iron-deficiency-associated syndrome predominantly in middle-aged women, characterized by microcytic anemia, dysphagia, glossitis, and koilonychia.
423
What are the clinical implications of chronic iron overload?
Chronic iron overload, or hemosiderosis, can lead to tissue injury known as hemochromatosis, which is associated with skin hyperpigmentation, ichthyosis-like changes, cirrhosis of the liver, diabetes mellitus, and cardiomyopathy.
424
What neurological issues can arise from manganese deficiency?
Neurological sequelae can occur due to loss-of-function mutations in the manganese-zinc dication transporter gene, SLC39A8, associated with glycosylation and mitochondrial disorders.
425
What are the essential functions of zinc in the human body?
Zinc is an important micronutrient that plays essential roles in:
- Protein and nucleic acid synthesis
- Wound healing
- T-cell, neutrophil, and natural killer cell function
- Regulation of intracellular and extracellular zinc levels
- Metabolic pathways involving metalloenzymes.
426
What dietary sources provide the highest bioavailability of zinc?
The dietary sources with the highest and most bioavailable forms of zinc include:
| Food Source | Bioavailability |
|-------------|----------------|
| Meat | Highest |
| Fish | High |
| Shellfish | High |
| Eggs | Moderate |
| Dairy Products | Moderate |
| Legumes | Low |
427
What are the clinical implications of zinc deficiency?
Zinc deficiency can lead to:
- Impaired mobilization of hepatic retinol stores
- Impaired night vision (nyctalopia)
- Increased risk of infections due to compromised immune function.
428
How does the absorption of zinc occur in the body?
Zinc absorption occurs primarily in the small intestine. It is regulated by:
- Adequate dietary intake
- Transport proteins (ZnT and Zip families)
- Factors such as phytates and fiber that can inhibit absorption.
429
What is the gold standard for diagnosing zinc deficiency?
The gold standard for diagnosing zinc deficiency is measuring low plasma zinc levels. However, care must be taken as contaminated needles and sample tubes can lead to erroneously high measured zinc levels.
430
What is the treatment protocol for zinc deficiency?
The treatment for zinc deficiency involves:
- Zinc supplementation with either an enteral or parenteral formulation.
- Clinical response is typically rapid, with initial improvement noted within several days.
431
What is zinc's role in the body?
Zinc is an essential component of many metalloenzymes involved in metabolic pathways and cellular functions, important for protein and nucleic acid synthesis, wound healing, and immune function.
432
What dietary sources are highest in bioavailable zinc?
Meat and fish are the highest and most bioavailable forms of zinc.
433
What is the significance of human breastmilk in zinc levels?
Human breastmilk contains very high levels of zinc during the first 1 to 2 months of lactation, which decreases subsequently, and it has a zinc-binding ligand that increases bioavailability.
434
What are the consequences of zinc deficiency?
Zinc deficiency can result in impaired mobilization of hepatic retinol stores and is associated with impaired night vision (nyctalopia).
435
How is zinc absorbed in the body?
Enteral zinc absorption occurs in the small intestine, and zinc excretion occurs primarily via the GI tract.
436
What can interfere with zinc absorption?
Excessive calcium intake and phytates found in certain foods can interfere with normal zinc absorption.
437
What is acrodermatitis enteropathica?
A rare autosomal recessive disorder of zinc absorption that presents during infancy due to a defect in an intestinal zinc transporter.
438
What populations are at special risk for zinc deficiency?
Populations at special risk include those with intestinal malabsorption syndromes, liver disease, anorexia nervosa, and extensive cutaneous burns.
439
What is the treatment for zinc deficiency?
Zinc supplementation with either an enteral or parenteral formulation is appropriate, with rapid clinical response noted within several days.
440
A child presents with alopecia, diarrhea, and eczematous dermatitis around the mouth and hands. What is the likely diagnosis and underlying cause?
Acrodermatitis enteropathica, caused by a defect in the intestinal zinc transporter (ZIP4 protein).
441
A patient with inflammatory bowel disease presents with delayed wound healing, photophobia, and brittle hair. What deficiency should be suspected?
Zinc deficiency.
442
What are the classic features of Acrodermatitis Enteropathica (AE)?
Alopecia, diarrhea, lethargy, acute eczematous and erosive dermatitis favoring periorificial and acral areas, and cutaneous findings.
443
What are the associated conditions with acquired zinc deficiency (AZD)?
- **Inadequate intake**
- **Impaired absorption** due to intestinal malabsorption syndromes (e.g., inflammatory bowel disease, cystic fibrosis)
- **Increased excretion** due to:
1. Pregnancy
2. Lactation
3. Extensive cutaneous burns
4. Generalized exfoliative dermatoses
5. Food faddism
6. Parenteral nutrition
7. Anorexia nervosa
8. Excessive sweating
9. Alcoholism
10. Nephrotic syndrome
11. Nephritic syndrome
444
What is the recommended treatment for children with mild-to-moderate zinc deficiency?
Children with mild-to-moderate zinc deficiency should receive:
- **0.5 to 1.0 mg/kg of elemental zinc** given as 1 to 2 daily doses.
- Higher doses may be required in cases of AZD caused by intestinal malabsorption.
445
What are the characteristic histological findings in acquired zinc deficiency (AZD)?
The characteristic histological findings in AZD include:
- **Variable psoriasiform hyperplasia**
- **Confluent parakeratosis**
- **Spongiosis and pallor of the upper epidermis**
- **Focal dyskeratosis**
- **Variable epidermal atrophy**
These findings are not specific and may be seen in other nutritional deficiencies.
446
What is the significance of serum alkaline phosphatase in diagnosing zinc deficiency?
- **Serum alkaline phosphatase** is a zinc-dependent enzyme and serves as a rapid indicator of zinc status.
- It may be low-normal in zinc deficiency.
- An increase in serum alkaline phosphatase levels with zinc supplementation confirms the diagnosis of zinc deficiency.
447
What is the estimated annual incidence of noma worldwide?
The WHO estimates 500,000 cases per year with a 79% mortality rate.
448
What are the early symptoms of acute noma?
Early symptoms of acute noma include:
- **Soreness of the mouth**
- **Halitosis**
- **Tenderness of the lip or cheek**
- **Cervical lymphadenopathy**
- **Purulent oral discharge**
449
What is the management approach for acute noma?
Management of acute noma focuses on minimizing damage and includes the following key goals:
1. **Correction of dehydration and electrolyte imbalances**
2. **Treatment of predisposing diseases** (e.g., malaria, measles, HIV, tuberculosis)
3. **Antibiotics**: Broad-spectrum or metronidazole, depending on the predominant organisms
4. **Oral hygiene** with chlorhexidine digluconate rinses
5. **Nutritional rehabilitation** (oral, enteral, or parenteral)
6. **Local wound care**
7. **Physiotherapy** to reduce strictures from fibrous scarring
Surgical intervention is deferred until the acute phase has ended.
450
What are the potential long-term complications of healed noma lesions?
Long-term complications of healed noma lesions can include:
- **Strictures of the mouth**
- **Severe dental malposition**
- **Defective speech**
- **Complete closure of the mouth** due to contractures
451
What is noma and what are its primary characteristics?
Noma, also known as necrotizing ulcerative stomatitis, is a devastating gangrenous condition that primarily affects children aged 1 to 7 years. It destroys soft and hard tissue of the face, often beginning with an ulcer on the oral mucosa that rapidly spreads, leading to severe tissue destruction and a high mortality rate. It is predominantly found in areas with poor hygiene and malnutrition, particularly in parts of Africa, Latin America, and Asia.
452
What are the predisposing factors associated with the development of noma?
The predisposing factors for noma include:
1. **Early malnutrition**
2. **Chronic infections** from early weaning from breastmilk
3. **Poor oral hygiene**
4. **Stress**
5. **Any oral mucosal ulceration or trauma**, including tooth eruption and viral ulcers.
453
What can happen if Acrodermatitis Enteropathica is untreated?
The disease can be fatal.
454
What is noma and who does it predominantly affect?
Noma is a devastating gangrenous condition that predominantly affects children between ages 1 to 7 years.
455
What are the initial symptoms of acute noma?
Early symptoms include soreness of the mouth, halitosis, tenderness of the lip or cheek, cervical lymphadenopathy, and purulent oral discharge.
456
What is the treatment requirement for patients with Acrodermatitis Enteropathica?
Lifelong treatment is required.
457
A malnourished child presents with necrotizing gingivitis, halitosis, and rapidly progressing facial necrosis. What is the likely diagnosis?
Noma (cancrum oris).
458
What is noma?
Noma is a devastating gangrenous condition that predominantly affects children between ages 1 to 7 years.
459
What are some predisposing factors for developing noma?
Predisposing factors include early malnutrition and chronic infections from early weaning from breastmilk.
460
What is the relationship between malnutrition and noma?
Malnutrition contributes to immune dysfunction in the malnourished, which is a significant factor in the pathogenesis of noma.
461
What is the management approach for acute noma?
Management is geared toward minimizing damage, correcting dehydration and electrolyte imbalances, and treating predisposing diseases.
462
What complications can arise from healing noma lesions?
Complications can include strictures of the mouth, severe dental malposition, defective speech, and complete closure of the mouth from contractures.
463
What is the prodrome of noma?
The prodrome of noma is not well documented due to late presentation to medical care and rapid progression, but parents often describe fever and apathy.
464
What are the laboratory findings associated with noma?
Laboratory findings may include severe anemia, high white blood cell count, and hypoalbuminemia.
465
What is the most common affected site of pellagra?
Dorsum of the hands.
466
Which vitamin deficiency presents as a seborrheic-like dermatitis of the face, scalp, neck, shoulders, buttocks, and perineum, overlapping with niacin deficiency?
Vitamin B6 (pyridoxine) deficiency.
467
What vitamin deficiency should be ruled out before initiating treatment for folate deficiency?
Vitamin B12 deficiency.
468
What serum cobalamin level is a definite diagnosis for vitamin B12 deficiency?
<200 ng/ml.
469
What is the earliest cutaneous sign of scurvy?
Phrynoderma.
470
The neonatal (early onset) form of biotin deficiency is due to a defect in which enzyme?
Holocarboxylase synthetase.
471
What is the earliest and most common sign of copper deficiency?
Neutropenia.
472
What disease is characterized by a cherubic appearance with a depressed nasal bridge, ptosis, and reduced facial movements?
Menkes disease.
473
What selenium deficiency presents with multifocal myocarditis?
Keshan disease.
474
What nail change is associated with iron deficiency?
Koilonychia.
475
What is the autosomal recessive disorder of zinc absorption?
Acrodermatitis enteropathica.
476
What is one known risk factor for noma?
Poverty.
477
What is Noma neonatorum and its causative organism?
Noma neonatorum is a condition related but separate from noma, primarily caused by Pseudomonas aeruginosa.
478
What is the highest risk group for developing Noma neonatorum?
Preterm and low-birthweight newborns, especially those with severe intrauterine growth retardation.
479
What are the two most frequently isolated organisms in Noma?
Prevotella intermedia and Fusobacterium necrophorum.
480
What is the link between measles and Noma?
There is a proposed link between measles and the development of Noma, with ulcerative oral lesions in patients with measles being a potential initiation site.
