103: Neonatal Dermatology Flashcards
(139 cards)
1
Q
At 6 weeks of gestational age, the epidermis develops a basal cell layer and a superficial periderm layer. What is the significance of the periderm?
A
The periderm does not contribute to the formation of stratified squamous epithelium and is shed during the end of the 2nd trimester, indicating its temporary role in skin development.
2
Q
How does the epidermal barrier function differ between term and preterm neonates?
A
In term neonates, the epidermal barrier function is fully developed by 2-4 weeks of life, while in preterm neonates, particularly those born before 34 weeks, the barrier function is markedly decreased and may take longer to mature.
3
Q
What are the implications of increased transepidermal water loss (TEWL) in preterm neonates?
A
Increased TEWL in preterm and low birthweight neonates reflects epidermal barrier immaturity and is associated with a higher risk of infection and sepsis due to skin fragility and potential entry points for pathogens.
4
Q
What changes occur in the thickness of the stratum corneum during the first three months of life?
A
During the first three months of life, the thickness of the stratum corneum decreases, while epidermal thickness increases, leading to the formation of dermal papillae and epidermal ridges.
5
Q
What role does vernix caseosa play in neonatal skin development?
A
Vernix caseosa is produced around 36 weeks of gestation and is crucial for epidermal maturation and the formation of the stratum corneum. It has antimicrobial, antioxidant, and barrier functions, contributing to skin protection.
6
Q
What is the neonatal period defined as?
A
The first 30 days of life.
7
Q
At what gestational age does the epidermis begin to develop?
A
6 weeks of gestational age.
8
Q
When does the functional maturation of the stratum corneum begin in preterm infants?
A
Around 24 weeks of gestation.
9
Q
What happens to the thickness of the stratum corneum in the first 3 months of life?
A
It decreases, while epidermal thickness increases.
10
Q
How does thermal regulation function in premature infants?
A
It is dysfunctional due to a thin subcutaneous fat layer and poor autonomic control.
11
Q
What is the role of emollient therapy in premature infants?
A
It improves skin integrity but may increase the risk of systemic candidiasis.
12
Q
What is the typical skin pH in term and preterm neonates compared to older infants?
A
It is more alkaline in term and preterm neonates.
13
Q
What are the key developmental milestones of the epidermis during the first 6 weeks of gestation in neonates?
A
- 6 weeks: Epidermis begins to develop as a basal cell layer and a superficial periderm layer.
- 8 weeks: Stratification of fetal epidermis and DEJ evident.
- 11-15 weeks: Terminal differentiation first in skin appendages, then in interfollicular epidermis.
- 15 weeks: Collagen fiber formation and organization of papillary and reticular dermis.
- 22-24 weeks: Epidermis consists of 4-5 cell layers, elastic fibers noted.
14
Q
How does the epidermal barrier function differ between term and preterm neonates, and what are the clinical implications?
A
- Term Neonates:
- Full barrier function achieved by 2-4 weeks of life.
- TEWL is equivalent to adults after drying of the skin.
- Preterm Neonates:
- Markedly decreased epidermal barrier function, particularly in those born before 34 weeks.
- Functional maturation of the stratum corneum begins around 24 weeks, may take longer than 4 weeks in very preterm infants.
- Clinical Implications:
- Increased risk for infection and sepsis due to fragile skin.
- Higher TEWL rates lead to greater fluid loss and potential for dehydration.
15
Q
What are the risks associated with thermal regulation in premature infants, and how should they be managed?
A
- Risks:
- Dysfunctional thermal regulation due to thin subcutaneous fat layer.
- Decreased ability to sweat and poor autonomic control of cutaneous blood vessels.
- Large surface-area-to-body-mass ratio increases heat loss.
- Management:
- Place premature infants in a temperature and humidity controlled isolette.
- Monitor temperature and fluid regulation until stabilized.
- Consider the use of radiant warmers and phototherapy cautiously, as they can increase TEWL.
16
Q
What is the significance of vernix caseosa in neonates, and how does its production correlate with skin development?
A
- Vernix Caseosa:
- A lipid-rich substance produced by sebaceous glands, beginning around 36 weeks of gestation.
- Composed of water-containing corneocytes in a lipid matrix, providing antimicrobial and antioxidant properties.
- Significance:
- Plays a crucial role in the maturation of the epidermal barrier and formation of the stratum corneum.
- Protects the skin from environmental factors and aids in skin hydration.
17
Q
What are the recommendations for routine skin care in neonates?
A
- Bathing in water 2 to 3 times per week for no more than 5 to 10 minutes using a gentle soap-free liquid skin cleanser instead of a washcloth.
- Application of an emollient after bathing.
- An appropriate skin-care regimen minimizes overbathing, maintains the epidermal barrier, and reduces exposure to irritants.
- Less is best to avoid irritation and allergic contact dermatitis.
18
Q
What are some considerations regarding the use of topical substances in neonates?
A
Neonates have an increased risk for systemic toxicity from topically applied substances due to:
- Greater surface-area-to-body-mass ratio compared to adults.
- Preterm neonates have an even greater ratio, increasing the risk of toxicity.
- Differences in metabolism, excretion, and protein binding of substances compared to adults, which can magnify adverse effects, especially in preterm neonates.
19
Q
What are the characteristics and resolution timeline of caput succedaneum?
A
Caput succedaneum is characterized by:
- Subcutaneous edema over the presenting part of the head due to pressure against the cervix.
- Common occurrence in newborns, soft to palpation with ill-defined borders.
- Petechiae and ecchymosis may also be noted.
Resolution: Typically resolves spontaneously over 7 to 10 days.
20
Q
What is the typical presentation and resolution of milia in newborns?
A
Milia are:
- 2-mm papules that are benign, superficial epidermal inclusion cysts, usually few in number.
- Most commonly found on the face in newborns.
- Generally resolve spontaneously within a few weeks of life.
- Persistent or numerous milia may be associated with rare genetic disorders: oral-facial-digital syndrome, Bazex-Dupré- Christol syndrome, and
Basan syndrome
21
Q
What is the difference between caput succedaneum and cephalohematoma?
A
Caput succedaneum is soft and ill-defined, while cephalohematoma is a firm collection of blood that respects suture lines and may be associated with skull fractures.
22
Q
What is sebaceous gland hyperplasia?
A
A condition where at least 50% of normal newborns have minute yellow macules or papules at the opening of pilosebaceous follicles, resolving spontaneously by 4 to 6 months of age.
23
Q
What are the distinguishing features of caput succedaneum and cephalohematoma in neonates?
A
Caput Succedaneum
- Subcutaneous edema over the presenting part of the head
- Soft to palpation with ill-defined borders
- Petechiae and ecchymosis may be noted
- Resolves spontaneously over 7 to 10 days
Cephalohematoma
- Collection of blood between the skull and periosteum, respects suture lines
- Firm to palpation, usually unilateral
- Associated with birth trauma or vacuum extraction
- Usually resolves without sequelae over several weeks, but calcification may occur
24
Q
What is erythema toxicum neonatorum and how does it typically present in newborns?
A
- Erythema Toxicum Neonatorum: An idiopathic skin condition seen in up to 75% of term newborns.
- Presentation: Characterized by blotchy erythematous patches 1-3 cm in diameter with a 1-4 mm central vesicle or pustule.
- Onset: Eruption usually begins at 24 to 48 hours of age, but can be delayed up to 10 days.
- Location: Lesions can be located anywhere but tend to spare the palms and soles.
- Resolution: Clears spontaneously by 2 to 3 weeks of age without residua.
25
What is Transient Neonatal Pustular Melanosis and how does it present?
Transient Neonatal Pustular Melanosis is an idiopathic pustular eruption in newborns characterized by multiple superficial vesicles and pustules, often with ruptured lesions that appear as collarettes of scale. It is more common in newborns with darkly pigmented skin and can present at birth or as late as 3 weeks of age. Hyperpigmented macules may develop at the sites of resolving pustules and usually resolve within 5 to 7 days.
26
What are the characteristics and causes of Miliaria Rubra and Crystallina?
Miliaria, or 'heat rash', is a common disorder of the eccrine glands resulting from fever or overheating, especially when neonates are swaddled. Miliaria crystallina presents as minute superficial subcorneal vesicles, while Miliaria rubra involves deeper occlusion with inflammation, manifesting as 1-3 mm erythematous papules or papulopustules. Both conditions resolve spontaneously once the inciting factors are addressed.
27
What is mottling in neonates and how does it resolve?
Mottling is a blotchy or lace-like pattern of dusky erythema over the extremities and trunk of neonates, occurring with exposure to cold environments. It is a common physiological response due to immature autonomic control of the cutaneous vascular plexus and typically resolves spontaneously within 6 months of age upon rewarming.
28
What is Harlequin Color Change and what does it indicate?
Harlequin Color Change is a rare vascular phenomenon in full-term, LBW, premature newborns, and in infants exposed to hypoxia or systemic prostaglandins.
It is characterized by an erythematous flush on one side of the body when placed in a lateral position, with the upper half becoming pale. It is localized or generalized. This condition usually subsides within seconds but may persist for up to 20 minutes. It is thought to be due to immaturity of autonomic vasomotor control.
Seldom seen after 10 days of age, and if noted to be persistent or to develop at an older age, may be a manifestation of an underlying neurologic disorder.
29
What are sucking blisters and how do they develop in neonates?
Sucking blisters are solitary, intact, oval or linear blisters that may be present at birth or develop during the first weeks of life due to intrauterine sucking. They typically arise on noninflamed skin on the forearms, wrists, or fingers and resolve within a few days. If the affected extremity is brought to the infant's mouth, it often confirms the diagnosis as the infant will commence sucking at the site.
30
What is Benign Neonatal Cephalic Pustulosis and how does it differ from true infantile acne?
Benign Neonatal Cephalic Pustulosis is characterized by acneiform facial eruptions that develop within the first 30 days of life, affecting about 50% of newborns. It is attributed to overgrowth of Malassezia spp. and usually resolves spontaneously. True infantile acne is less common, distinguished by later onset and the presence of comedones, acneiform cysts, and scars.
31
What are the implications of birthmarks in newborns?
Birthmarks are common in newborns and can range from benign conditions like nevus simplex to more concerning conditions such as large segmental hemangiomas. While most birthmarks have little medical or psychosocial consequence, the social and cultural impact of a disfiguring birthmark on both the patient and the parents should not be underestimated.
32
What is the common outcome for Benign Neonatal Cephalic Pustulosis?
Most cases resolve spontaneously within the first 30 days of life.
33
What are the characteristics and prognosis of Transient Neonatal Pustular Melanosis in newborns?
- **Idiopathic pustular eruption** that resolves with hyperpigmented macules.
- Less common than **erythema toxicum neonatorum**, more prevalent in newborns with **darkly pigmented skin**.
- Usually present at birth or shortly thereafter, may appear as late as **3 weeks of age**.
- Characterized by **multiple superficial vesicles and pustules** with ruptured lesions evident as **collarettes of scale**.
- Commonly found on the **forehead** and **mandibular** area, but can occur **anywhere**, including palms and soles.
- Smear of vesicle contents shows predominance of **neutrophils** with occasional **eosinophils**.
- Pustules usually disappear within **5 to 7 days**; residual pigmented macules resolve over several weeks.
34
What is the clinical outcome of mottling in neonates?
- **Mottling** is a blotchy or lace-like pattern of dusky erythema over extremities and trunk, common in neonates due to immature autonomic control of the cutaneous vascular plexus.
- Physiologic mottling resolves spontaneously by **6 months of age** and disappears on rewarming.
35
What is the clinical significance of Harlequin Color Change in newborns?
- **Harlequin Color Change** is a rare vascular phenomenon observed in full-term newborns, low-birthweight, and premature infants.
- Indicates **immaturity of autonomic vasomotor control**; if persistent after **10 days of age**, it may suggest an underlying **neurologic** disorder.
36
What are dermal melanocytosis commonly known as?
Dermal melanocytosis are commonly known as 'Mongolian spots' and are typically located on the lumbo-sacral or buttock skin of infants.
37
What is the significance of multiple café-au-lait macules in infants?
Multiple café-au-lait macules raise the possibility of neurofibromatosis type 1, which is progressive and cannot be excluded based on a neonatal examination with only one or a few macules present.
38
How are congenital melanocytic nevi classified based on size?
Small: <1.5 cm
Medium: 1.5 - 10 cm
Large: 10 - 30 cm
Giant: >30 cm
39
What is pigmentary mosaicism and how does it manifest on the body?
Pigmentary mosaicism, or patterned dyschromatosis, is characterized by areas of skin hypopigmentation or hyperpigmentation determined by genetic mutations in skin cell progenitors. It tends not to cross the midline of the body and may appear in curvilinear patterns along Blaschko lines or as checkerboard, phylloid, or patchy patterns.
40
What is nevus depigmentosus and when might it become more visible?
Nevus depigmentosus is a well-demarcated hypopigmented patch present from birth that may become more visible in the first year of life as the background skin pigmentation of the newborn gradually increases.
41
What is the primary characteristic of nevus anemicus?
Nevus anemicus is characterized by a hypopigmented patch that results from focal vasoconstriction and is attributed to skin vessel hypersensitivity to catecholamines.
42
What is a classic congenital melanocytic nevus?
A melanocytic nevus present at birth or appearing within the first few months of life.
43
What is the most common type of vascular birthmark in infants?
Nevus simplex, also known as a salmon patch, stork bite, or angel kiss.
44
It is the most common tumor of infancy that must be differentiated from vascular malformations and other vascular anomalies.
Infantile hemangioma
45
What are vascular malformations?
A heterogeneous group of vascular dysplasias that encompass slow-flow malformations such as capillary, venous, and lymphatic.
46
How does the presence of large congenital melanocytic nevi (CMN) affect the risk of melanoma in infants?
Large and giant congenital melanocytic nevi (CMN) are associated with an **increased risk of melanoma**. This risk is particularly significant if the CMN has a posterior axial location or if there are more than 20 satellite nevi present. Newborns with more than 2 medium-sized CMN are also at increased risk of neurocutaneous melanocytosis.
47
What is the significance of nevus depigmentosus in a newborn?
Nevus depigmentosus is a well-demarcated hypopigmented patch present from birth that may become more visible as the newborn's skin pigmentation increases. The presence of **three or more nevus depigmentosus/hypomelanotic patches** should prompt evaluation for possible **tuberous sclerosis complex**.
48
What differentiates nevus anemicus from nevus depigmentosus during a clinical examination?
Nevus anemicus is characterized by a hypopigmented patch resulting from focal vasoconstriction and will blanch when pressure is applied with a glass slide (diascopy). In contrast, the border of a nevus depigmentosus remains crisp despite diascopy, making this a key differentiating factor during examination.
49
What are the characteristics and common locations of nevus simplex in neonates?
Nevus simplex, also known as a 'salmon patch', 'stork bite', or 'angel kiss', represents a superficial vascular ectasia of the capillaries. It is most commonly found on the **glabella**, **upper eyelids**, and **nuchal area**. These marks appear frequently in all races, with a majority fading over the first 2 years of life, although those on the occipital scalp tend to persist.
50
What is a nevus sebaceus and what are its potential complications?
A **nevus sebaceus** is a benign skin hamartoma comprised of numerous sebaceous glands, typically appearing as a yellow-hued hairless plaque on the head of newborns. Potential complications include:
- Development of secondary benign neoplasms such as trichoblastoma or syringocystadenoma papilliferum.
- Rarely, basal cell carcinoma (BCC) may arise within a nevus sebaceous.
- Widespread nevus sebaceous may be associated with increased risk of abnormalities in the central nervous system, eye, or skeletal systems (Schimmelpenning syndrome).
51
What are the characteristics and treatment options for epidermal nevus?
**Epidermal nevus** is characterized by curvilinear arrays of tan-brown hyperkeratotic papules and/or thin, elongated rough plaques that follow the lines of Blaschko. Treatment options include:
- **Surgical excision**, which can result in large scars and restrict range of motion in some locations.
- **Laser treatment** and local dermal shave excision, though these carry a high recurrence risk.
- Infants with widespread epidermal nevi should be evaluated for associated diseases of the central nervous, ocular, and skeletal systems.
52
What are the implications of midline facial lesions in neonates?
Midline facial lesions, such as dermoid cysts, can be markers of **cranial dysraphism**. They may indicate:
- Possible associated malformations, which are important for diagnosis and management.
- The need for radiologic evaluation to rule out intracranial connections before a skin biopsy.
- High-risk lumbosacral anomalies may also be present, necessitating further investigation.
53
What is the significance of a human tail in neonates?
A **human tail** is a rare developmental anomaly that may be composed of vestigial appendages including adipose tissue, blood vessels, muscle fibers, and nerves. Its presence may indicate other underlying developmental issues and warrants further evaluation.
54
What are the characteristics of meningocele and myelomeningocele?
**Meningocele** involves the herniation of meninges and cerebrospinal fluid through a defect in the calvarium or vertebrae, often associated with a persistent intracranial defect. **Myelomeningocele** includes neural tissue of the spinal cord and is the most common presentation of spina bifida. Preoperative imaging is recommended for both conditions prior to surgical excision and reconstruction.
55
What are the potential complications associated with widespread nevus sebaceous?
Increased risk of abnormalities in the central nervous system, eye, or skeletal systems (Schimmelpenning or nevus sebaceus syndrome).
56
What are dermoid cysts and where do they typically arise?
Dermoid cysts typically arise along planes of embryonic fusion of the face and scalp and may adhere to the underlying periosteum.
57
What is a nasal glioma composed of?
A nasal glioma is composed of heterotopic neural tissue and may distort central facial structures.
58
How should a neonate with a midline facial lesion be evaluated for potential associated anomalies?
A neonate with a midline facial lesion, such as a dermoid cyst, should undergo a thorough evaluation for associated cranial dysraphism. This includes:
1. Radiologic evaluation to rule out intracranial connections before any skin biopsy.
2. Assessment for additional congenital anomalies, especially if there are multiple minor anomalies present.
3. Consultation with a neurosurgeon if there are signs of associated intracranial or spinal anomalies.
59
What is the significance of a sacral dimple in a neonate, and when should imaging be considered?
A sacral dimple can indicate **potential occult spinal dysraphism**. Imaging should be considered in the following cases:
- **Intermediate risk:** Atypical sacral dimple (≥5 mm diameter or location ≥2.5 cm from the anus), aplasia cutis congenita, overlying hamartoma, or deviated gluteal cleft.
- **Low-risk lesions** that do not require imaging include small focal infantile hemangiomas or simple sacral dimples with a visible base (≤5 mm diameter and location ≤2.5 cm from the anus).
60
What are the recommended management steps for a nasal glioma in a neonate?
Management of a nasal glioma includes:
1. Referral to neurosurgery for surgical excision due to the potential for distortion of central facial structures.
2. Preoperative imaging to assess the extent of the lesion and any associated anomalies.
3. Monitoring for complications related to the presence of heterotopic neural tissue.
61
What are the key considerations for surgical excision of dermoid cysts in neonates?
Key considerations for surgical excision of dermoid cysts include:
1. Assessment of attachment to underlying structures, as they may adhere to the periosteum.
2. Preoperative MRI to evaluate for deeper extension, especially for nasal dermoid cysts that may have a risk of intracranial extension.
3. Timing of surgery to prevent complications and ensure proper management of any associated anomalies.
62
What are pseudotails and how do they differ from true human tails?
Pseudotails resemble true human tails but are not related to the embryonic human tail. Examples include **sacrococcygeal teratomas** and **myelomeningoceles**. True human tails, but not pseudotails, are associated with spinal dysraphism, and MRI is recommended.
63
What is hypertrichosis and its association with spinal dysraphism?
Hypertrichosis refers to localized hypertrichosis overlying the lumbosacral, cervical, or thoracic spine, which may be associated with spinal dysraphism, particularly when prominent, known as a 'faun tail'.
64
What are the characteristics and treatment of branchial cleft anomalies?
Branchial cleft anomalies include branchial cysts, clefts, and sinuses, which are common developmental remnants involving the neck. They present as a mass, draining sinus, or recurrent infection. The definitive treatment is surgical excision.
65
What is a thyroglossal duct cyst and its treatment?
A thyroglossal duct cyst is a congenital neck anomaly presenting as a midline mass from the suprasternal notch to the posterior tongue. It arises from the developmental remnant of the migrational tract of the thyroid gland. The definitive treatment is surgical excision, and preoperative verification of a normal thyroid gland is mandatory.
66
What are urachal cysts and their surgical implications?
Urachal cysts are developmental anomalies of the umbilical cord resulting from failure of regression of the urachus. They usually present with persistent drainage from the umbilicus or an umbilical mass. Surgical repair is indicated, and umbilical granulomas may require silver nitrate chemical cautery.
67
What is aplasia cutis congenita and its common presentation?
Aplasia cutis congenita is characterized by localized areas of absence of skin and sometimes underlying subcutaneous tissues and bone, most often noted on the scalp. It may be solitary or multiple, and the lesions are always hairless.
68
What are the signs of infections in neonates and the initial management approach?
Signs of infections in neonates include subtle clues like decreased body temperature, poor feeding, and poor muscular tone. Initial management involves 'ruling out sepsis' with blood, cerebrospinal fluid, and urine cultures, and starting IV antibiotic therapy while awaiting results.
69
What are the potential signs of congenital viral infection in neonates?
Signs of congenital viral infection may include petechiae, purpura, jaundice, hepatomegaly, splenomegaly, microcephaly, encephalopathy, ocular abnormalities, anemia, and thrombocytopenia, especially if they arise with 'blueberry muffin' violaceous to purpuric nodules.
70
What is the risk associated with untreated neonatal herpes simplex virus infection?
Untreated neonatal herpes simplex virus (HSV) infection has a 50% mortality rate, with 75% of survivors suffering neurologic sequelae. The greatest risk occurs during vaginal delivery if the mother has active, primary genital herpes.
71
What is the significance of the hair collar sign in neonates?
The hair collar sign is a marker of cranial dysraphism. The next step is a careful examination of the infant and cranial imaging to rule out intracranial connections.
72
What are the clinical implications of localized hypertrichosis overlying the lumbosacral region in neonates?
Localized hypertrichosis in the lumbosacral region may indicate spinal dysraphism, particularly when prominent (known as 'faun tail'). This condition necessitates further evaluation, including MRI, to assess for underlying spinal anomalies.
73
How should a thyroglossal duct cyst be managed in neonates, and what should be verified preoperatively?
A thyroglossal duct cyst should be managed with surgical excision. Preoperative verification of a normal thyroid gland is crucial to avoid complications associated with ectopic thyroid tissue.
74
What are the key features and management strategies for aplasia cutis congenita in neonates?
Aplasia cutis congenita is characterized by localized absence of skin, often on the scalp, and may present as sharply marginated atrophic macules. Management includes:
1. Local wound care to promote healing.
2. Surgical revision may be considered later for cosmetic improvement.
3. Monitoring for associated anomalies, especially if the hair collar sign is present, indicating potential cranial dysraphism.
75
What are the common clinical features of herpes infection in neonates?
Herpes in neonates typically involves the skin, eye, or mouth. Common features include:
- Clusters of vesicles on an erythematous base.
- Vesicles appearing within the first 24 hours of life suggest in utero acquisition of HSV.
- Onset during the first week to 10 days of life is more common due to exposure during delivery.
- A high index of suspicion is necessary even in the absence of maternal infection or history of genital herpes.
76
What are the potential complications associated with erythroderma in neonates?
Erythroderma in neonates can lead to several life-threatening complications, including:
- Sepsis
- Dehydration
- Electrolyte imbalance
It may signal serious underlying conditions such as genetic, infectious, inflammatory, metabolic, or immunologic disorders.
77
What are the risk factors for essential fatty acid deficiency in neonates?
Risk factors for essential fatty acid deficiency in neonates include:
- Malnutrition, which may result from specialized infant formulas.
- Improper infant feeding or fad diets.
- Hyperalimentation.
- Disorders such as cystic fibrosis that result in malabsorption.
78
What is the significance of screening for SCID in neonates?
Screening for Severe Combined Immunodeficiency (SCID) in neonates is significant because:
- It allows for early detection of a heterogeneous group of immunodeficiency disorders characterized by combined T-cell and B-cell dysfunction.
- Early diagnosis can lead to timely interventions, such as bone marrow transplantation, which is crucial before 3 to 4 months of age to prevent severe infections and other complications.
79
What are the clinical features of Omenn syndrome in neonates?
Omenn syndrome, a rare form of SCID, presents with the following clinical features:
- Exfoliative erythroderma
- Failure to thrive
- Chronic diarrhea
- Lymphadenopathy
- Hepatosplenomegaly
The prognosis is poor in the absence of bone marrow transplantation.
80
What is the significance of vesicles appearing during the first 24 hours of life in neonates?
It suggests in utero acquisition of HSV.
81
What is the recommended treatment for suspected neonatal herpes?
IV acyclovir should be instituted as soon as possible after specimens are collected.
82
What does congenital cutaneous candidiasis present with in full-term neonates?
Widespread erythematous macules, papules, and pustules associated with superficial desquamation.
83
What are some inflammatory dermatoses that may present in the first few weeks of life?
Seborrheic dermatitis, infantile psoriasis, juvenile pityriasis rubra pilaris, and atopic or nonatopic eczema.
84
What is the association between inborn errors of metabolism and skin conditions in neonates?
They can present with desquamative dermatitis and other symptoms like lethargy and seizures.
85
What is the prognosis for infants with SCID?
Poor prognosis due to the risk for severe infection, failure to thrive, and other complications.
86
What is Omenn syndrome and its association with SCID?
A rare form of SCID resulting from autosomal recessive mutations, characterized by exfoliative erythroderma and failure to thrive.
87
What are the key features of DiGeorge syndrome?
Thymic aplasia, cardiac anomalies, hypoparathyroidism, cleft palate, and eczematous dermatitis.
88
What are the management considerations for herpes simplex virus (HSV) infection in neonates?
- High suspicion should be maintained even without maternal infection history.
- Diagnostic tests include direct fluorescent antibody assay, viral culture, Tzanck smear, and polymerase chain reaction.
- IV acyclovir should be initiated promptly to minimize CNS replication and systemic dissemination.
89
How does congenital cutaneous candidiasis present in full-term versus preterm neonates, and what are the implications for management?
- Full-term Neonates:
- Presents with widespread erythematous macules, papules, and pustules associated with superficial desquamation.
- Preterm Neonates:
- May present with large, weeping erosions.
- Management Implications:
- Early recognition and treatment are crucial to prevent complications such as secondary infections and to manage skin integrity.
90
What are the potential underlying conditions associated with erythroderma in neonates, and how can they be differentiated?
- Potential Underlying Conditions:
- Genetic disorders (e.g., congenital ichthyosis, Netherton syndrome).
- Infectious conditions (e.g., seborrheic dermatitis, infantile psoriasis).
- Inflammatory conditions (e.g., atopic dermatitis).
- Metabolic and immunologic disorders.
- Differentiation Strategies:
- Assess family history of atopy or psoriasis.
- Evaluate primary morphology and areas of predilection.
- Monitor for additional symptoms over time to aid in diagnosis.
91
What genes are mutated in Omenn syndrome?
Rare form of SCID due to autosomal recessive mutations in RAG-1 or RAG-2 genes.
92
How does Omenn syndrome differ from other forms of SCID?
Omenn syndrome presents with more pronounced skin manifestations and systemic symptoms compared to other SCID types.
93
What is the most common presentation of seborrheic dermatitis in infants?
The most common presentation is a greasy yellow scale with mild underlying erythema on the scalp, commonly referred to as 'cradle cap'.
94
What are the clinical features of irritant diaper dermatitis?
Irritant diaper dermatitis is characterized by erythematous, moist, and sometimes scaly patches, favoring the convex surfaces of the genitalia and buttocks, with skin folds classically spared.
95
What are the common allergens associated with allergic contact diaper dermatitis?
Common contact allergens include preservatives, fragrances, rubber additives, and disperse dyes in diapers or baby wipes.
96
What is the treatment for granuloma gluteale infantum?
The treatment includes avoidance of irritants, use of a barrier ointment, and avoidance of topical corticosteroids.
97
What differentiates candidal diaper dermatitis from other types of diaper dermatitis?
Candidal diaper dermatitis is characterized by bright red erythematous moist papules, patches, and plaques, with involvement of body folds and presence of satellite papules.
98
What are the clinical implications of prolonged exposure to moisture in diaper dermatitis?
Prolonged exposure can lead to increased frictional damage, decreased barrier function of the skin, increased reactivity to irritants, and potential for superinfection.
99
What is the pathophysiology hypothesized to cause seborrheic dermatitis?
An exaggerated immune response to skin colonization with Malassezia species.
100
What is the most common cause of diaper dermatitis?
Irritant contact dermatitis (ICD).
101
What is Jacquet erosive dermatitis?
An uncommon, severe diaper dermatitis characterized by well-demarcated, punched-out ulcers and erosions.
102
What is granuloma gluteale infantum?
An uncommon diaper rash with reddish purplish nodules on the convexities of the diaper area in infants.
103
What are pseudoverrucous papules and nodules?
Flat-topped, skin-colored papules in the diaper and perianal areas of patients with chronic moisture exposure.
104
What should be considered in the differential diagnosis of diaper eruptions?
Conditions like infantile seborrheic dermatitis, napkin psoriasis, and Langerhans cell histiocytosis.
105
What is the clinical presentation of seborrheic dermatitis in infants, and how does it differ from infantile psoriasis?
Seborrheic dermatitis presents as greasy yellow scales with mild underlying erythema, particularly on the scalp. In contrast, infantile psoriasis shows more prominent scaling and is often associated with other areas.
106
What are the key factors contributing to irritant diaper dermatitis in infants?
Key factors include prolonged exposure to moisture, contact with urine and feces, fecal proteolytic and lipolytic digestive enzymes, increased skin pH, and possible superinfection with Candida.
107
How does candidal diaper dermatitis differ from irritant diaper dermatitis in terms of clinical features?
Candidal diaper dermatitis is characterized by bright red, erythematous, moist papules, patches, and plaques that often involve body folds. In contrast, irritant diaper dermatitis typically shows erythematous patches favoring convex surfaces.
108
What are the differential diagnoses to consider when evaluating diaper dermatitis in infants?
Differential diagnoses include seborrheic dermatitis, candidal diaper dermatitis, irritant contact dermatitis, allergic contact dermatitis, granuloma gluteale infantum, and dermatoses not related to diaper wearing.
109
What are the characteristics and management recommendations for infantile myofibromatosis?
Characteristics include rubbery dermal and subcutaneous nodules, solitary or multiple myofibromas. Management involves clinical observation.
110
What is the typical presentation and treatment for congenital smooth muscle hamartoma?
Presentation includes a solitary irregular dermal plaque on the trunk or proximal extremities. Treatment can be observed or surgically excised if symptomatic.
111
What is neuroblastoma in infants?
It is the second most common solid tumor of childhood, associated with 'blueberry muffin' baby appearance, and skin biopsy showing small, round cells with large atypical nuclei.
112
What are the clinical signs and diagnostic methods for congenital leukemia in newborns?
Clinical signs include ecchymoses, petechiae, and skin nodules. Diagnostic methods include skin biopsy and complete blood counts.
113
What is cutaneous mastocytosis and how do you diagnose it?
It is a spectrum of mast cell proliferative disorders affecting the skin. Diagnostic criteria often involve clinical diagnosis and skin biopsy.
114
What is the main treatment for fibrous hamartoma of infancy?
Excision, as recurrence rates are low.
115
What are the common features of congenital smooth muscle hamartoma?
Benign dermal proliferations of hyperplastic smooth muscle, solitary irregular dermal plaque, and may have associated hypertrichosis.
116
What is the second most common solid tumor of childhood?
Neuroblastoma.
117
What skin findings are associated with congenital leukemia in newborns?
Ecchymoses, petechiae, and skin nodules.
118
What is a common presentation of Langerhans cell histiocytosis in newborns?
Tan- to-pink papulovesicles, nodules, ulcerations, and petechiae.
119
What is cutaneous mastocytosis?
A spectrum of mast cell proliferative disorders that affect the skin, including solitary mastocytoma and urticaria pigmentosa.
120
What is the Darier sign in relation to cutaneous mastocytosis?
Brisk stroking of affected skin results in mast cell degranulation with a wheal and flare reaction.
121
What are the management considerations for infantile myofibromatosis?
Management considerations involve observation as myofibromas typically resolve spontaneously.
122
How is congenital smooth muscle hamartoma treated?
Treatment options include observation or surgical excision for symptomatic lesions.
123
What are the clinical implications of Langerhans cell histiocytosis in newborns?
Clinical implications include potential complications in other organ systems.
124
What is the management of cutaneous mastocytosis in infants?
Management involves oral antihistamines and avoiding triggers.
125
What are the main types of Epidermolysis Bullosa (EB) and how are they distinguished?
Types include EB simplex, junctional EB, dystrophic EB, and Kindler syndrome, distinguished by the localization of the cleavage plane within the skin.
126
What is Congenital Ichthyosis and how does it present?
Congenital Ichthyosis is a heterogeneous group of disorders involving abnormal epidermal differentiation, presenting with a collodion membrane or thick, plate-like hyperkeratotic scales.
127
What are the characteristics of Ectodermal Dysplasia in neonates?
Ectodermal Dysplasia is characterized by abnormalities in skin, hair, nails, teeth, and eccrine glands, often diagnosed late.
128
What is Incontinentia Pigmenti and its clinical manifestations?
Incontinentia Pigmenti is an X-linked disorder with cutaneous manifestations, hair, teeth, and nail abnormalities, and ocular anomalies.
129
What is Incontinentia Pigmenti and its clinical manifestations?
Incontinentia Pigmenti is an X-linked disorder classified as a type of ectodermal dysplasia. Its clinical manifestations include cutaneous manifestations such as vesicular eruptions following Blaschko's lines, abnormalities of hair, teeth, and nails, and ocular anomalies and neurologic abnormalities.
## Footnote
It is more common in females due to prenatal lethality in affected males, but males can present with the condition under certain circumstances.
130
What are the features of Subcutaneous Fat Necrosis of the Newborn?
Subcutaneous Fat Necrosis of the Newborn is characterized by firm, red to purple subcutaneous nodules or plaques on the back, cheeks, buttocks, arms, and thighs. It usually appears within the first 2 weeks of life and resolves spontaneously over several weeks. Skin biopsy shows lobular fat necrosis with needle-shaped clefts in lipocytes and mixed inflammation. Infants are at risk for hypercalcemia and should be monitored.
131
What is Sclerema Neonatorum and its risk factors?
Sclerema Neonatorum is characterized by diffuse skin hardening in a sick, premature newborn. Onset occurs after 24 hours of age. Critically ill premature neonates with sepsis, hypoglycemia, acidosis, or severe metabolic abnormalities are at the highest risk. Skin appears hard and shiny, and biopsy reveals needle-like crystals within lipocytes without associated inflammatory infiltrate.
132
What is Anetoderma of Prematurity and how does it present?
Anetoderma of Prematurity is a specific form of iatrogenic anetoderma seen in premature infants. It presents with round, flat atrophic patches on the chest and abdomen, developing between 6 weeks and 5 months of age. Lesions often occur at sites where adhesive monitoring leads were removed. Avoidance of pressure may help reduce the risk of developing anetoderma.
133
What are the characteristics of Cutis Marmorata Telangiectatica Congenita?
Cutis Marmorata Telangiectatica Congenita is characterized by persistent, reticulated atrophic violaceous vascular patches, sometimes with telangiectasias and ulceration. It is a sporadic condition with an unknown etiology, though theories of vascular malformation are favored. Most frequently affects the lower extremity, but trunk or upper extremity involvement is not uncommon. The majority have a good prognosis, with half demonstrating improvement of the mottled appearance over the first 2 years.
134
What are the characteristics of Congenital Ichthyosis?
Congenital Ichthyosis is a heterogeneous group of inherited disorders involving abnormal epidermal differentiation, often presenting with a collodion membrane and can include severe forms like harlequin ichthyosis.
135
Incontinentia Pigmenti is caused by mutations in what gene?
Incontinentia Pigmenti is an X-linked disorder classified as a type of ectodermal dysplasia, caused by mutations in the NEMO/IKBKG gene, leading to cutaneous manifestations and other abnormalities.
136
What is the prognosis of Epidermolysis Bullosa in neonates?
Epidermolysis Bullosa (EB) is a mechanobullous disease with variable presentation. Milder forms have an excellent prognosis, while more severe forms (junctional EB and recessive dystrophic) are associated with significant morbidity and mortality.
137
How does the most severe form of Congenital Ichthyosis present in neonates and what are the associated risks?
Congenital Ichthyosis may present with a collodion membrane, particularly in autosomal recessive congenital ichthyosis. The most extreme form, harlequin ichthyosis, presents with thick, plate-like hyperkeratotic scales and is associated with respiratory insufficiency, dehydration, metabolic abnormalities, and sepsis.
138
What are the diagnostic challenges of Ectodermal Dysplasia in neonates?
Diagnosis is often delayed until features like delayed dentition and alopecia become apparent. X-linked hypohidrotic ectodermal dysplasia may be suspected based on characteristic facies and unexplained hyperpyrexia in neonates. Other forms include p63-related syndromes.
139
Milia present in the oral cavity are called?
Epstein pearls
