Classic Presentations Flashcards
(118 cards)
0
Q
Familial hypercholesterolemia
A
Achilles’ tendon xanthoma (⬇️ LDL receptor signaling)
1
Q
Budd-Chiari syndrome
A
Abdominal pain, ascites, hepatomegaly (posthepatic venous thrombosis)
2
Q
Waterhouse-Friderichsen syndrome
A
Adrenal hemorrhage, hypotension, DIC (meningococcemia)
3
Q
Marfan’s syndrome
A
Archnodactyly, lens dislocation, aortic dissection, hyperflexible joints (fibrillin defect)
4
Q
Secondary to erythropoietin injection
A
Athlete with polycythemia
5
Q
Pott’s disease
A
Back pain, fever, night sweats, weight loss (vertebral tuberculosis)
6
Q
Sarcoidosis
A
Bilateral hilar adenopathy, uveitis (noncaseating granulomas)
7
Q
Osteogenesis imperfecta
A
Blue sclera (type I collagen defect)
8
Q
Burton’s line
A
Bluish line on gingiva (lead poisoning)
9
Q
Paget’s disease of bone
A
Bone pain, bone enlargement, arthritis (⬆️ osteoblastic and osteoclastic activity)
10
Q
Aortic regurgitation
A
Bounding pulses, diastolic heart murmur, head bobbing
11
Q
Systemic lupus erythematosus
A
“Butterfly” facial rash and Raynaud’s phenomenon in a young female
12
Q
Neurofibromatosis type I
A
Café-au-lait spots, Lisch nodules (iris hamartoma) [+pheocromocytoma, optic glioma]
13
Q
McCune Albright syndrome
A
Café-au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities (mosaic G-protein signaling mutation)
14
Q
Muscular dystrophy
A
Calf pseudohypertrophy (most commonly Duchenne’s; X-linked recessive deletion of dystrophin gene)
15
Q
Tay-Sachs or Niemann-Pick, central retinal artery occlusion
A
“Cherry-red spot” on macula
Tay-Sachs ➡️ ganglioside accumulation
Niemann-Pick ➡️ sphingomyelin accumulation
16
Q
Angina
A
Chest pain on exertion (stable: with moderate exertion; unstable: with minimal exertion)
17
Q
Dressler’s syndrome
A
Chest pain, pericardial effusion/friction rub, persistent fever following MI (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
18
Q
Gowers’ sign
A
Child uses arms to stand up from squat (Duchenne’s muscular dystrophy)
19
Q
“Slapped cheeks”
A
Child with fever later develops red rash on face that spreads to body (erythema infectiosum/fifth disease: parvovirus B19)
20
Q
Huntington’s disease
A
Chorea, dementia, caudate degeneration (autosomal dominant CAG repeat expansion)
21
Q
McArdle’s disease
A
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria (muscle glycogen phosphorylase deficiency)
22
Q
Hypothyroidism
A
Cold intolerance
23
Q
Internuclear ophthalmoplegia
A
Conjugate lateral gaze palsy, horizontal diplopia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
24
PDA
Continuous "machinery" heart murmur (close with indomethacin; open or maintain with misoprostol)
25
Myxedema
Cutaneous/dermal edema due to connective tissue deposition (caused by hypothyroidism, Graves' disease [pretibial])
26
Kaposi's sarcoma
Dark purple skin/mouth nodules (usually AIDS patients [MSM]: associated with HHV-8)
27
Kussmaul breathing
Deep, labored breathing/hyperventilation (diabetic ketoacidosis)
28
Pellagra
Dermatitis, diarrhea, dementia (niacin [vitamin B3] deficiency)
29
Wet beriberi
Dilated cardiomyopathy, edema, alcoholism or malnutrition (thiamine [vitamin B1] deficiency)
30
Pasteurella multocida
Dog or cat bite resulting in infection (cellulitis at inoculation site)
31
Sjögren's syndrome
Dry eyes, dry mouth, arthritis (autoimmune destruction of exocrine glands)
32
Plummer-Vinson syndrome
Dysphagia (esophageal webs), glossitis, iron deficiency anemia [may progress to esophageal squamous cell carcinoma]
33
Ehlers-Danlos syndrome
Elastic skin, hypermobility of joints (type III collagen defect)
34
Virchow's node
Enlarged, hard left supraclavicular node (abdominal metastasis)
35
Sézary syndrome (cutaneous T cell lymphoma) or mycosis fungoides
Erythroderma, lymphadenopathy, hepatosplenomegly, atypical T cells
36
Chvostek's sign
Facial muscle spasm upon tapping (hypocalcemia)
37
Cholelithiasis
Fat, female, forty, fertile (gallstones)
38
Jarisch-Herxheimer reaction
Fever, chills, headache, myalgia following antibiotic treatment for syphilis (rapid lysis of spirochetes results in toxin release)
39
Measles (Morbillivirus)
Fever, cough, conjunctivitis, coryza, diffuse rash
40
B symptoms (staging) of lymphoma
Fever, night sweats, weight loss
41
Peyronie's disease
Fibrous plaques in soft tissue of penis (connective tissue disorder)
42
Lesch-Nyhan syndrome
Gout, mental retardation, self mutilating-behavior in a boy (HGPRT - hypoxanthine guanine phosphoribosyltransferase - deficiency, X-linked recessive)
43
Kayser-Fleischer rings
Green-yellow rings around peripheral cornea (copper accumulation from Wilson's disease)
44
Peutz-Jeghers syndrome
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands (inherited, benign polyposis can cause bowel obstruction; ⬆️ cancer risk, mainly GI)
45
Gaucher's disease
Hepatosplenomegly, osteoporosis, neurologic symptoms (glucocerebrosidase deficiency)
46
Alport syndrome
Hereditary nephritis, sensorineural hearing loss, cataracts (mutation in alpha chain of collagen type IV)
47
Klüver-Bucy syndrome
Hyperphagia, hypersexuality, hyperorality, hyperdocility (bilateral amygdala lesion)
48
UMN lesion
Hyperreflexia, hypertonia, Babinski sign (+)
49
LMN lesion
Hyporeflexia, hypotonia, atrophy, fasciculations
50
"Blue boater"
Hypoxemia, polycythemia, hypercapnia (chronic bronchitis: hyperplasia of mucous cells)
51
Chancre
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)
52
Patau's syndrome
Infant with clef lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia (trisomy 13)
53
Niemann-Pick disease
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration (genetic sphingomyelinase deficiency)
54
Cori's disease
Infant with hypoglycemia, failure to thrive and hepatomegaly (debranching enzyme deficiency)
55
Edward's syndrome
Infant with microcephaly, rocker-bottom feet, clenched hands and structural heart defect (trisomy 18)
56
Courvoisier's sign
Jaundice and palpable, distended, non-tender gallbladder (distal obstruction of biliary tree)
57
Erythema chronicum migrans
Large rash with bull's-eye appearance (Lyme disease: Borrelia; from Ixodes tick bite)
58
Epidural hematoma
Lucid interval after traumatic brain injury (middle meningeal artery)
59
Bruton's disease
Male child, recurrent infections, no mature B cells (X-linked agammaglobulinemia)
60
Glanzmann's thrombasthenia
Mucosal bleeding and prolonged bleeding time (defect in platelet aggregation due to lack of GpIIb/IIIa)
61
Beck's triad of cardiac tamponade
Muffled heart sounds, distended neck veins, hypotension
62
Gardner's syndrome
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth (subtype of FAP)
63
Pompe's disease
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance [lysosomal alpha-1,4-glucosidase deficiency]
64
Erb-Duchenne palsy
Neonate with arm paralysis following difficult birth (superior trunk [C5-C6] brachial plexus injury: "waiter's tip")
65
Sheehan's syndrome
No lactation postpartum, absent menstruation, cold intolerance (pituitary infarction)
66
Multiple sclerosis
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
67
Cheyne-Stokes respirations
Oscillating slow/fast breathing (central apnea in CHF or ⬆️ intracranial pressure)
68
Cold agglutinin disease
Painful, blue fingers/toes, hemolytic anemia (autoimmune hemolytic anemia cause by Mycoplasma pneumoniae, infectious mononucleosis)
69
Raynaud's phenomenon
Painful, pale, cold fingers/toes (vasospasm in extremities)
70
Osler's node
Painful, raised red lesions on pad of fingers/toes (infective endocarditis, immune complex deposition)
71
Janeway lesions
Painless erythematous lesions on palms and soles (infective endocarditis, septic emboli/microabscesses)
72
Cancer of the pancreatic head obstructing bile duct
Painless jaundice
73
Henoch-Schönlein purpura
Palpable purpura on the buttocks/legs, joint pain, abdominal pain (child), hematuria [IgA vasculitis affecting skin and kidneys)
74
MEN 1
Pancreatic, pituitary, parathyroid tumors (autosomal dominant)
75
Nephrotic syndrome
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
76
"Pink puffer"
Pink complexion, dysnea, hyperventilation (emphysema: centriacinar [smoking], panacinar [alpha-1-antitrypsin deficiency])
77
Fanconi's syndrome
Polyuria, renal tubular acidosis type IIA, growth failure, electrolyte imbalances, hypophosphatemic rickets (proximal tubular reabsorption defect)
78
Anterior cruciate ligament injury
Positive anterior "drawer sign" [cajón (+)]
79
Lichen planus
Pruritic, purple, polygonal planar papules and plaques (6 p's)
80
Horner's syndrome
Ptosis, miosis, anhidrosis (sympathetic chain lesion)
81
Argyll Robertson pupil
Pupil accommodates but doesn't react (neurosyphilis)
82
Guillain-Barré syndrome
Rapidly progressive leg weakness that ascends following GI/upper respiratory tract infection (acute autoimmune inflammatory demyelinating polyneuropathy)
83
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
84
Hyper-IgE syndrome
Recurrent colds, unusual eczyma, high serum IgE (Job's syndrome: neutrophil chemotaxis abnormality)
85
Klebsiella pneumoniae
Red "currant jelly" sputum in alcoholic or diabetic patients
86
Red "currant jelly" stools
Acute mesenteric ischemia (adults), intussusception (infants)
87
Paget's disease of the breast
Red, itchy, swollen rash of nipple/areola (represents underlying neoplasm)
88
Paroxysmal nocturnal hemoglobinuria
Red urine in the morning, fragile RBC's
89
von Hippel-Lindau disease
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheocromocytoma (dominant tumor suppressor gene mutation)
90
Parkinson's disease
Resting tremor, rigidity, akinesia, postural instability (nigrostriatal dopamine depletion)
91
Roth's spots
Retinal hemorrhages with pale centers (bacterial endocarditis)
92
Crigler-Najjar syndrome
Severe jaundice in neonate (congenital unconjugated hyperbilirubinemia)
93
Rovsing's sign
Severe RLQ pain with palpation of LLQ (acute appendicitis)
94
McBurney's sign
Severe RLQ pain with rebound tenderness (appendicitis)
95
Fanconi's anemia
Short stature, ⬆️ incidence of tumors/leukemia, aplastic anemia (genetic loss of DNA cross link repair; often progresses to AML)
96
Simian crease
Single palmar crease (Down syndrome)
97
Kartagener's syndrome
Situs inversus, chronic sinusitis, bronchiectasis, infertility (dynein arm defect affecting cilia)
98
Addison's disease
Skin hyperpigmentation, hypotension, fatigue (primary adrenocortical insufficiency causes ⬆️ ACTH and ⬆️ alpha-MSH production)
99
Becker's muscular dystrophy
Slow, progressive muscle weakness in boys (X-linked missense mutation in dystrophin; less severe than Duchenne's)
100
Koplik spots
Small, irregular red spots on buccal/lingual mucosa with blue-white centers (measles; rubeola virus)
101
Condylomata lata
Smooth, flat, moist, painless white lesions on genitals (secondary syphilis)
102
Bacterial endocarditis
Splinter hemorrhages in fingernails
103
"Strawberry tongue"
Scarlet fever, Kawasaki disease, toxic shock syndrome
104
Tuner syndrome
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema (45,XO)
105
Gout/podagra
Sudden swollen, painful big toe joint, tophi (hyperuricemia)
106
Scurvy
Swollen gums, mucosal bleeding, poor wound healing, spots on skin (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
107
Osteoarthritis
Swollen, hard, painful finger joints (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])
108
Aortic valve stenosis
Systolic ejection murmur (crescendo-decrescendo)
109
MEN 2A
Thyroid and parathyroid tumors, pheocromocytoma (autosomal dominant ret mutation)
110
MEN 2B
Thyroid tumors, pheocromocytoma, ganglioneuromatosis (autosomal dominant ret mutation)
111
Babinski sign
Tie extension/fanning upon plantar scrape (UMN lesion)
112
Facial nerve (LMN CN VII palsy)
Unilateral facial drooping involving forehead
113
Reactive arthritis associated with HLA-B27
Urethritis, conjunctivitis, arthritis in male ("can't pee, can't see, can't climb a tree")
114
Hemangioma
Vascular birthmark (port-wine stain) [benign, but associated with Sturge-Weber syndrome]
115
Mallory-Weiss syndrome
Vomiting blood following gastroesophageal lacerations (alcoholic and bulimic patients)
116
Whipple's disease
Weight loss, diarrhea, arthritis, fever, adenopathy (Tropheryma whipplei)
117
Subarachnoid hemorrhage
"Worst headache of my life"
