FA - Classic Presentations Flashcards

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1
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (DOWN LDL receptors signaling)

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2
Q

Adrenal hemorrhage
Hypotension
DIC

A

Waterhouse-Friederichsen (meningococcemia)

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3
Q

Anterior “drawer sign” (+)

A

Anterior cruciate ligament injury.

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4
Q

Arachnodactyly
Lens dislocation
Aortic dissection
Hyperflexible joints

A

Marfan

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5
Q

Athlete with polycythemia

A

Secondary to erythropoietin injection.

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6
Q

Back pain
Fever
Night sweats
Weight loss

A

Pott disease (vertebral TB)

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7
Q

Bilateral hilar lymphadenopathy

Uveitis

A

Sarcoidosis

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8
Q

Blue sclera

A

Osteogenesis imperfecta (type I collagen defect)

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9
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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10
Q

Bone pain
Bone enlargement
Arthritis

A

Paget disease of bone

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11
Q

Bounding pulses
Diastolic heart murmur
Head bobbing

A

Aortic regurgitation

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12
Q

“Butterfly” rash + Raynaud phenomenon in a young female?

A

SLE

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13
Q
Cafe-au-lait spots
Lisch nodules (iris hamartomas)
A

NF-1 (+pheochromocytoma, optic gliomas)

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14
Q

Cafe-au-lait spots
Polyostotic fibrous dysplasia
Precocious puberty
Multiple endocrine abnormalities

A

McCune-Albright syndrome (mosaic G-protein signaling mutation).

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15
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene.

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16
Q

“Cherry-red spots” on macula

A

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation) or central artery occlusion.

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17
Q

Chest pain on exertion

A

Angina (stable with moderate exertion; unstable with minimal exertion).

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18
Q

Chest pain
Pericardial effusion/friction rub
Persistent fever following MI

A

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

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19
Q

Child uses arms to stand up from squat.

A

Gowers sign –> Duchenne muscular dystrophy

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20
Q

Child with fever later develops red rash on face that spreads to body.

A

“Slapped cheeks” - Erythema infectiosum - 5th disease - B19.

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21
Q

Chorea
Dementia
Caudate degeneration

A

Huntington disease (AD CAG repeat expansion).

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22
Q

Chronic exercise intolerance with myalgia
Painful cramps
Myoglobinuria

A

McArdle disease (muscle glycogen phosphorylase deficiency).

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23
Q

Cold intolerance

A

Hypothyroidism

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24
Q

Conjugate lateral gaze palsy

Horizontal diplopia

A

Internuclear ophthalmoplegia - Damage to MLF - Bilateral –> MS - Unilateral –> Stroke.

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25
Q

Continuous “machine-like” heart murmur

A

PDA - Close with indomethacin; open or maintain with misoprostol.

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26
Q

Cutaneous/dermal edema due to connective tissue deposition.

A

Myxedema - Hypothyroidism, Graves (pretibial).

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27
Q

Dark purple skin

Mouth nodules in an AIDS patient

A

Kaposi sarcoma (HHV-8).

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28
Q

Deep, labored breathing

Hyperventilation

A

Kussmaul respirations (DKA).

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29
Q

Dermatitis
Dementia
Diarrhea

A

Pellagra - niacin (B3) deficiency.

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30
Q

DCM
Edema
Alcoholism or malnutrition

A

Wet beriberi (thiamine (B1) deficiency).

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31
Q

Dog or cat bite resulting in infection.

A

P.multocida (cellulitis at inoculation site).

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32
Q

Dry eyes
Dry mouth
Arthritis

A

Sjogren syndrome

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33
Q

Dysphagia (esophageal webs)
Glossitis
Iron deficiency
Anemia

A

Plummer-Vinson syndrome –> May progress to esophageal SCC.

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34
Q

Elastic skin

Hypermobility of joints

A

EDS (type III collagen defect).

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35
Q

Enlarged, hard left supraclavicular node.

A

Virchow node - abdominal metastasis.

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36
Q

Erythroderma
Lymphadenopathy
HSM
Atypical T cells

A

Mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood).

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37
Q
Fever
Chills
Headache
Myalgia
following antibiotic treatment for syphilis.
A

Jarisch-Herxheimer reaction - rapid lysis of spirochetes results in toxin release.

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38
Q
Fever
Diffuse Rash
Cough 
Conjunctivitis 
Coryza
A

Measles

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39
Q

Fever
Night sweats
Weight loss

A

B symptoms

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40
Q

Fibrous plaques in soft tissue of penis

A

Peyronie disease (connective tissue disorder).

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41
Q

Gout
Intellectual disability
Selft-mutilating behavior in a boy

A

Lesch-Nyhan syndrome - HGPRT deficiency, X-linked recessive.

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42
Q

Green-yellow rings around peripheral cornea.

A

Kayser-Fleischer rings.

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43
Q

HSM
Osteoporosis
Neurologic symptoms

A

Gaucher disease (glucocerebrosidase deficiency)

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44
Q

Hereditary nephritis
Sensorineural hearing loss
Cataracts

A

Alport syndrome (mutation in collagen IV).

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45
Q

Hyperphagia
Hypersexuality
Hyperorality
Hyperdocility

A

Kluver-Bucy lesion - bilateral amygdala lesion.

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46
Q

Hyperreflexia
Hypertonia
Babinski (+)

A

UMN damage

47
Q

Hyporeflexia
Hypotonia
Atrophy
Fasciculations

A

LMN damage

48
Q

Hypoxemia
Polycythemia
Hypercapnia

A

“Blue bloatter” - chronic bronchitis.

49
Q

Indurated, ulcerated genital lesion.

A

Nonpainful –> Chancre

Painful, with exudate –> Chancroid –> H.ducreyi.

50
Q

Infants with cleft lip/palate
Microcephaly or Holoprosencephaly
Polydactyly
Cutis aplasia

A

Patau (trisomy 13).

51
Q

Infants with failure to thrive
HSM
Neurodegeneration

A

Niemann-Pick (genetic sphingomyelinase deficiency)

52
Q

Infant with hypoglycemia
Failure to thrive
Hepatomegaly

A
  1. Cori disease (debranching enzyme def.)

2. von Gierke (Glucose-6-phosphatase deficiency, more severe).

53
Q

Infants with microcephaly
Rocker-bottom feet
Clenched hands
Structural heart defect

A

Edwards (trisomy 18)

54
Q

Jaundice

Palpable distended non-tender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree).

55
Q

Large rash with bull’s-eye appearance

A

Erythema chronicum migrans from Ixodes tick bite - Lyme disease: Borrelia.

56
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma - middle meningeal artery rupture.

57
Q

Male child
Recurrent infections
No mature B cells

A

Bruton disease - X-linked agammaglobulinemia.

58
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann thrombasthenia - defect in platelet aggregation due to lack of GpIIb/IIIa.

59
Q

Muffled heart sounds
Distended neck veins
Hypotension

A

Beck triad of cardiac tamponade

60
Q

Multiple colon polyps
Osteomas/soft tissue tumors
Impacted/supernumerary teeth

A

Gardner syndrome (subtype of FAP)

61
Q

Myopathy (infantile hypertrophic cardiomyopathy)

Exercise intolerance

A

Pompe disease (lysosomal α-1,4-glucosidase deficiency)

62
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy –> superior trunk (C5-C6) brachial plexus inury: “waiter’s tip”.

63
Q

No lactation postpartum
Absent menstruation
Cold intolerance

A

Sheehan syndrome (pituitary infarction)

64
Q

Nystagmus
Intention tremor
Scanning speech
Bilateral internuclear ophthalmoplegia

A

Multiple scleroris

65
Q

Oscillating slow/fast breathing

A

Cheyne-Stokes respirations –> central apnea in CHF or Incr. intracranial pressure.

66
Q

Painful blue fingers/toes

Hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by M.pneumoniae, IM).

67
Q

Painful
Pale
Cold fingers/toes

A

Raunaud phenomenon (vasospasm in extremities).

68
Q

Painful, raised red lesions on pad of fingers/toes.

A

Osler nodes (IE, immune complex deposition).

69
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions - IE, septic emboli, microabscesses.

70
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing the bile duct.

71
Q

Palpable purpura on buttocks/legs
Joint pain
Abdominal pain (child)
Hematuria

A

Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys).

72
Q

Pancreatic
Pituitary
Parathyroid tumors

A

MEN 1 (AD)

73
Q

Periorbital and/or peripheral edema
Proteinuria
Hypoalbuminemia
HyperCH

A

Nephrotic syndrome

74
Q

Pink complexion
Dyspnea
Hyperventilation

A

“Pink puffer” - emphysema - centriacinar (smoking), panacinar (alpha-1 antitrypsin.

75
Q
Polyuria 
Renal tubular acidosis type II
Growth failure
Electrolyte imbalances
Hypophosphatemic rickets
A

Fanconi syndrome - proximal tubule reabsorption defect.

76
Q

Pruritic, purple, polygonal planar papules and plaques (6P’s)

A

Lichen planus

77
Q

Ptosis
Miosis
Anhydrosis

A

Horner (sympathetic chain lesion)

78
Q

Pupil accomodates but doesn’t react

A

Argyll-Robertson pupil (neurosyphilis).

79
Q

Rapidly progressive leg weakness that ascends following GI/upper respiratory tract infection.

A

Guillain-Barre syndrome - acute autoimmune inflammatory demyelinating polyneuropathy.

80
Q

Rash on palms and soles

A
  1. Coxsackie A
  2. 2o syphilis
  3. RM spotted fever
81
Q

Recurrent colds
Unusual eczema
High serum IgE

A

Hyper-IgE syndrome - Job syndrome: neutrophil chemotaxis abnormality.

82
Q

Red “currant” jelly sputum in alcoholic or diabetic patients.

A

K.pneumoniae

83
Q

Red “currant jelly” stools

A

Acute mesenteric ischemia - adults.

Intussusception - infants.

84
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast - sign of UNDERLYING NEOPLASM

85
Q

Red urine in the morning

Fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

86
Q

Renal cell carcinoma (bilateral)
Hemangioblastomas
Angiomatosis
Pheochromocytoma

A

von Hippel-Lindau

87
Q

Resting tremor
Rigidity
Akinesia
Postural instability

A

Parkinson

88
Q

Retinal hemorrhages with pale centers

A

Roth spots - Bacterial endocarditis

89
Q

Severe jaundice in neonates.

A

Crigler-Najjar syndrome - congenital unconjugated hyperbilirubinemia

90
Q

Severe RLQ pain with palpation of LLQ.

A

Rovsing sign - acute appendicitis.

91
Q

Severe RLQ pain with rebound tenderness.

A

McBurney sign - Acute appendicitis.

92
Q

Short stature
UP incidence of tumors/leukemia
Aplastic anemia

A

Fanconi anemia - genetic loss of DNA crosslink repair; often progresses to AML!

93
Q

Single palmar crease

A

Down

94
Q

Situs inversus
Chronic sinusitis
Bronchiectasis
Infertility

A

Kartagener syndrome - dynein arm defect affecting cilia.

95
Q

Small irregular red spots on buccal/lingual mucosa with blue-white centers

A

Koplik spots (measles, rubeola virus).

96
Q

Smooth, flat, moist, painless white lesions on genitals.

A

Condylomata lata (2o syphilis).

97
Q

Splinter hemorrhages in finger nails.

A

Bacterial endocarditis

98
Q

“Strawberry tongue”

A
  1. Scarlet fever
  2. Kawasaki
  3. Toxic shock syndrome
99
Q
Streak ovaries 
Congenital heart disease
Horseshoe kidney
Cystic hygroma at birth
Short stature
Webbed neck
Lymphedema
A

Turner (45XO)

100
Q

Sudden swollen/painful big toe joint, tophi.

A

Gout/Podagra (hyperuricemia).

101
Q

Swollen gums
Mucosal bleeding
Poor wound healing
Petechiae

A

VitC def –> Can’t hydroxylate proline/lysine for collagen synthesis.

102
Q

Swollen, hard, painful finger joints.

A

Osteoarthritis - osteophytes on PIP (Bouchard nodes), DIP (Heberden nodes).

103
Q

Systolic ejection murmur - crescendo/decrescendo.

A

Aortic valve stenosis

104
Q

Thyroid
Parathyroid tumors
Pheochromocytoma

A

MEN2A (AD RET mutation)

105
Q

Thyroid tumors
Pheochromocytoma
Ganglioneuromatosis

A

MEN2B (AD RET mutation)

106
Q

Toe extension/fanning upon plantar scrape.

A

Babinski sign (UMN lesion)

107
Q

Unilateral facial drooping involving forehead

A

Facial nerve (LMN CN VII palsy).

108
Q

Urethritis
Conjunctivitis
Arthritis in a male

A

Reactive arthritis associated with HLA-B27.

109
Q

Vascular birthmark (port-wine stain)

A

Hemangioma (benign, but associated with Sturge-Weber syndrome).

110
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome - alcoholic and bulimic patients.

111
Q
Weight loss
Diarrhea
Arthritis
Fever
Adenopathy
A

Whipple disease (trophyrema whipplei)

112
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

113
Q

Abdominal pain
Ascites
Hepatomegaly

A

Budd-Chiari syndrome - Post hepatic venous thrombosis.