Classic presentations Flashcards
0
Q
Achilles’ tendon xanthoma
A
Familial hypercholesterolemia
1
Q
Abdominal pain
Ascites
Hepatomegaly
A
Budd-Chiari Syndrome (posthepatic venous thrombosis)
2
Q
Adrenal hemorrhage
HypoTN
DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
3
Q
Anterior drawer sign +
A
Anterior cruciate ligament injury
4
Q
Arachnodactyly
Lens dislocation
Aortic dissection
Hyper flexible joints
A
Marian syndrome (fibrillin defect)
5
Q
Athlete with polycythemia
A
Secondary to erythropoietin injection
6
Q
Back pain
Fever
Night sweats
Weight loss
A
Pott’s disease (vertebral TB)
7
Q
Bilateral hilar adenopathy
Uveitis
A
Sarcoidosis (noncaseating granulomas)
8
Q
Blue sclera
A
OI (type 1 collagen defect)
9
Q
Bluish line on gingiva
A
Burton line (lead poisoning)
10
Q
Bone pain
Bone enlargement
Arthritis
A
Page disease of bone (inc osteoblastic and clastic activity)
11
Q
Bounding pulses
Diastolic heart murmur
Head bobbing
A
Aortic regurgitation
12
Q
Butterfly facial rash
Raynaud phenom in a young woman
A
SLE
13
Q
Cafe-au-lait spots Lisch nodules (iris hamartoma)
A
Neurofibromatosis type 1 (+ pheochromocytoma, optic gliomas)
14
Q
Calf pseudohypertrophy
A
Duchenne muscular dystrophy (dystrophin gene)
15
Q
Cafe-au-lait spots
Polyostotic fibrous dysplasia
Precocious puberty
Multiple endocrine abnormalities
A
McCune-Albright syndrome
Mosaic G-protein signaling mutation
16
Q
Cherry-red spots on a macula
A
Tay-Sachs (ganglioside accumulation) OR
Niemann-Pick (sphingomyelin accumulation), Central artery occlusion
17
Q
Chest pain on exertion
A
Angina
Stable = moderate exertion
Unstable = minimal exertion
18
Q
Chest pain
Pericardial effusion/friction rub
Persistent fever following MI
A
Dresser syndrome
(Autoimmune-med post-MI fibrinous pericarditis)
1-12wks after acute episode
19
Q
Child uses arms to stand up from squat
A
Gowers sign (Duchenne muscular dystrophy)
20
Q
Child with fever later develops red rash on face that spreads to body
Slapped cheeks
A
Erythema infectiousum/fifth disease: parvovirus B19
21
Q
Chorea
Dementia
Caudatep degeneration
A
Huntington disease (Autoimmune dom CAG repeat expansion)
22
Q
Chronic exercise intolerance with myalgia
Fatigue
Painful cramps
Myoglobinuria
A
McArdle disease (Muscle glycogen phosphorylase deficiency)
23
Q
Cold intolerance
Myxedema
A
Hypothyroidism
24
Conjugate lateral gaze palsy
| Horizontal diplopia
Internuclear ophthalmoplegia
(Damage to MLF)
Bilateral = MS
Unilateral = stroke
25
Continuous machine-like heart murmur
PDA
Close = indomethacin
Open = misoprostol
26
Cutaneous/dermal edema due to connective tissue deposition
Myxedema
| (Hypothyroidism / Graves' disease [pretibial]
27
Dark purple skin
| Mouth nodules in a patient with AIDS
Kaposi sarcoma --> HHV8
28
Deep, labored breathing/hyperventilation
Kussmaul respirations --> diabetic ketoacidosis
29
Dermatitis
Dementia
Diarrhea
Pellagra --> niacin B3 def
30
Dilated cardiomyopathy
Edema
Alcoholism or malnutrition
Wet beriberi --> thiamine B1 def
31
Dog or cat bite resulting in infection
Pasteurella multocida --> cellulitis at inoculation site
32
Dry eyes
Dry mouth
Arthritis
```
Sjogren syndrome
(Autoimmune destruction do exocrine glands)
```
33
```
Esophageal webs (dysphagia)
Glossitis
Iron def anemia
```
Plummer-Vinson syndrome
| May progress to esophageal SCC
34
elastic skin
| hypermobility of joints
Ehlers-Danlos Syndrome
| Type III collagen defect
35
enlarged, hard left supraclavicular node
```
Virchow node
(abdominal metast)
```
36
erythroderma
lymphadenopathy
hepatosplenomegaly
atypical T cells
1. mycosis fungoides (cutaneous Tcell lymphoma)
| 2. Sezary syndrome (mycosis fungoides + malignant Tcells in blood)
37
Facial muscle spasm upon tapping
Chvostek sign (hypoCa++)
38
Fat
Female
Forty
Fertile
Cholelithiasis
39
Fever
Chills
headache
myalgia following antibiotic Tx for syphilis
Jarisch-Herxheimer reaction
| rapid lysis of spirochetes results in toxin release
40
```
fever
cough
conjunctivitis
coryza
diffuse rash
```
measles
41
fever
night sweats
weight loss
B symptoms (staging) of lymphoma
42
Fibrous plaques in soft tissue of penis
Peyronie disease (connective tissue disorder)
43
Gout
intellectual disability
self-mutilating behavior in a boy
Lesch-Nyhan syndrome
| HGPRT def; X-linked recessive
44
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (Copper accumulation from Wilson disease)
45
Hamartomatous GI polyps
| hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome
| (inherited, benign polyposis can cause bowel obstruction) inc risk of GI cancer
46
Hepatosplenomegaly
osteoperosis
neurologic Sx
gaucher disease (glucocerebrosidase def)
47
hereditary nephritis
sensorineural hearing loss
cataracts
Alport syndrome (mutation in collage IV)
48
Hyperphagia
hypersexuality
hyperorality
hyperdocility
Kluver-Bucy syndrome
| bilateral amygdala lesion
49
hyperreflexia
hypertonia
Babinski sign present
UMN damage
50
Hyporeflexia
hypotonia
atrophy
fasciculation
LMN damage
51
Hypoxemia
polycythemia
hypercapnia
chronic bronchitis: hyperplasia of mucous cells (Blue bloater)
52
indurated, ulcerated genital lesion
nonpainful: Chancre--> primary syphilis (T.pallidum)
| painful w/ exudate: chancroid (H. ducreyi)
53
infant with cleft palate/lip
microcephaly or
holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (Trisomy 13)
55
infant with failure to thrive
hepatosplenomegaly
neurodegeneration
cherry red spot on macula
Neimann-Pick disease
| genetic sphingomyelinase def
56
infant with hypoglycemia
failure to thrive
hepatomegaly
```
Cori disease (debranching enzyme def)
Von Gierke disease (glc-6-phosphatase def --> more severe)
```
57
infant with microcephaly
rocker-bottom feet
clenched hands
structural heart defect
Edwards Syndrome
| Trisomy 18
58
jaundice
| palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
59
large rash with bull's eye appearance
erythema chronicum migrans from Ixodes tick bite --> Lyme disease
60
lucid interval after traumatic brain injury
epidural hematoma --> middle meningeal artery rupture
61
male child
recurrent infections
no mature B cells
Bruton's disease
| X-linked agammaglobulinemia
62
mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia
| platelet aggregation defect due to lack of GpIIb/IIIa
63
muffled heart sounds
distended neck veins
hypotension
Beck triad of cardiac tamponade
64
multiple colon polyps
osteomas/soft tissue tumors
impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
65
myopathy (infantile hypertrophic cardiomyopathy)
| exercise intolerance
```
Pompe disease
(lysosomal alpha1,4-glucosidase def)
```
66
neonate with arm paralysis following difficult birth
Erb-Duchenne palsy
| superior trunk (C5-C6) brachial plexus injury "waiter's tip"
67
no lactation postpartum
absent menstruation
cold intolerance
Sheehan syndrome (pituitary infarct)
68
nystagmus
intention tremor
scanning speech
bilateral internuclear ophthalmoplegia
MS
69
oscillating show/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or inc in intracranial pressure)
70
painful blue fingers/toes
| hemolytic anemia
cold agglutinin disease
| autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis
71
painful, pale, cold fingers/toes
Raynaud phenom (vasospasm in extremities)
72
painful, raised red lesions on pad of toes/fingers
Osler nodes (infective endocarditis, immune complex deposition)
73
painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
74
painless jaundice
cancer of the pancreatic head obstructing bile duct
75
palpable purpura on buttocks/legs
joint pain
abdominal pain (child)
hematuria
Henoch-Schonlein purpura
| IgA vasculitis affecting skin and kidneys
76
pancreatic, pituitary, and parathyroid tumors
MEN 1 (AD)
77
periorbital and/or peripheral edema
proteinuria
hypoalbuminemia
hypercholesterolemia
nephrotic syndrome
78
pink complexion
dyspnea
hyperventilation
"pink puffer" --> emphysema
centriacinar = smoking
panacinar = alpha-antitrypsin def
79
```
polyuria
renal tubular acidosis type II
growth failure
electrolyte imbalances
hypophosphatemic rickets
```
Fanconi syndrome (proximal tubular reabsorption defect)
80
pruritic, purple, polygonal planar papules and plaques
Lichen planus
81
ptosis
miosis
anhidrosis
Horner syndrome (SNS chain lesion)
82
pupil accommodates but doesn't react
Argyll-Robertson pupil (neurosyphilis)
83
rapidly progressive leg weakness that ascends following GI/URTI
Guillian-Barre syndrome (actue autoimmune inflammatory demyelinating polyneuropathy)
84
rash on palms and soles
Coxsackie A
secondary syphilis
Rocky Mountain Spotted Fever
85
recurrent colds
unusual eczema
high serum IgE
Hyper-IgE syndrome (Job syndrome; neutrophil chemotaxis abnormality)
86
red "currant jelly" sputum in alcoholic or diabetic pt
Klebsiella pneumoniae
87
red "currant jelly" stools
acute mesenteric ischemia (adults)
| intussesception (infants)
88
red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
89
red urine in the morning
| fragile RBCs
paroxysmal nocturnal hemoglobinuria
90
bilateral renal cell Ca
hemangioblastoma
angiomatosis
pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
91
restin tremor
rigidity
akinesia
postural instability
Parkinson disease (nigrostriatal dopamine depletion)
92
retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
93
severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
94
severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
95
severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
96
short stature
inc incidence of tumors/leukemia
aplastic anemia
Fanconi anemia (genetic loss of DNA cross-link repair; often progresses to AML)
97
single palmar crease
Down syndrome
98
situs inversus
chronic sinusitis
bronchiectasis
infertility
Kartagener syndrome (dyne in arm defect affecting cilia)
99
skin hyper pigmentation
hypoTN
fatigue
Addison disease (primary adrenocortical insufficiency --> inc ACTH and inc alpha-MSH)
100
slow, progression muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
101
small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
102
smooth, flat, moist, painless white lesions on genitals
Condylomata lata (secondary syphilis)
103
splinter hemorrhages in fingernails
bacterial endocarditis
104
strawberry tongue
Scarlet fever
Kawasaki disease
toxic shock syndrome
105
streak ovaries
| preductal coarctation of aorta or bicuspid aortic valve
Turner syndrome
106
sudden swollen/painful big toe joint
| tophi
Gout/podagra (hyperuricemia)
107
swollen gums
mucosal bleeding
poor wound healing
petechiae
scurvy (Vit C def)
108
swollen, hard, painful finger joints
osteoarthritis (osteophytes in PIP [Bouchard], DIP [Heberden])
109
systolic ejection murmur (crescendo-decrescendo)
aortic valve stenosis
110
thyroid and parathyroid tumors
| pheochromocytoma
MEN 2A (AD ret mutation)
111
thyroid tumors
pheocromocytoma
ganglioneuromatosis
MEN 2B (AD ret mutation)
112
toe extension/fanning upon plantar scrape
Babinksi sign (UMN lesion)
113
unliateral facial drooping involving forehead
facial nerve (LMN CN VII palsy)
114
urethritis
conjunctivitis
arthritis in male
Reactive arthritis assoc with HLA-B27
115
vascular birthmark (port wine stain)
hemangioma (benign but assoc with Sturge-Weber syndrome)
116
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic pt)
117
```
weight loss
diarrhea
arthritis
fever
adenopathy
```
Whipple disease (Tropheryma whipplei)
118
"worst headache of my life"
subarachnoid hemorrhage
