FA - Classic Presentations Flashcards
1
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia (DOWN LDL receptors signaling)
2
Q
Adrenal hemorrhage
Hypotension
DIC
A
Waterhouse-Friederichsen (meningococcemia)
3
Q
Anterior “drawer sign” (+)
A
Anterior cruciate ligament injury.
4
Q
Arachnodactyly
Lens dislocation
Aortic dissection
Hyperflexible joints
A
Marfan
5
Q
Athlete with polycythemia
A
Secondary to erythropoietin injection.
6
Q
Back pain
Fever
Night sweats
Weight loss
A
Pott disease (vertebral TB)
7
Q
Bilateral hilar lymphadenopathy
Uveitis
A
Sarcoidosis
8
Q
Blue sclera
A
Osteogenesis imperfecta (type I collagen defect)
9
Q
Bluish line on gingiva
A
Burton line (lead poisoning)
10
Q
Bone pain
Bone enlargement
Arthritis
A
Paget disease of bone
11
Q
Bounding pulses
Diastolic heart murmur
Head bobbing
A
Aortic regurgitation
12
Q
“Butterfly” rash + Raynaud phenomenon in a young female?
A
SLE
13
Q
Cafe-au-lait spots Lisch nodules (iris hamartomas)
A
NF-1 (+pheochromocytoma, optic gliomas)
14
Q
Cafe-au-lait spots
Polyostotic fibrous dysplasia
Precocious puberty
Multiple endocrine abnormalities
A
McCune-Albright syndrome (mosaic G-protein signaling mutation).
15
Q
Calf pseudohypertrophy
A
Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene.
16
Q
“Cherry-red spots” on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation) or central artery occlusion.
17
Q
Chest pain on exertion
A
Angina (stable with moderate exertion; unstable with minimal exertion).
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)
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.
A
“Slapped cheeks” - Erythema infectiosum - 5th disease - B19.
21
Q
Chorea
Dementia
Caudate degeneration
A
Huntington disease (AD CAG repeat expansion).
22
Q
Chronic exercise intolerance with myalgia
Painful cramps
Myoglobinuria
A
McArdle disease (muscle glycogen phosphorylase deficiency).
23
Q
Cold intolerance
A
Hypothyroidism
24
Q
Conjugate lateral gaze palsy
Horizontal diplopia
A
Internuclear ophthalmoplegia - Damage to MLF - Bilateral –> MS - Unilateral –> Stroke.
25
Continuous "machine-like" heart murmur
PDA - Close with indomethacin; open or maintain with misoprostol.
26
Cutaneous/dermal edema due to connective tissue deposition.
Myxedema - Hypothyroidism, Graves (pretibial).
27
Dark purple skin
| Mouth nodules in an AIDS patient
Kaposi sarcoma (HHV-8).
28
Deep, labored breathing
| Hyperventilation
Kussmaul respirations (DKA).
29
Dermatitis
Dementia
Diarrhea
Pellagra - niacin (B3) deficiency.
30
DCM
Edema
Alcoholism or malnutrition
Wet beriberi (thiamine (B1) deficiency).
31
Dog or cat bite resulting in infection.
P.multocida (cellulitis at inoculation site).
32
Dry eyes
Dry mouth
Arthritis
Sjogren syndrome
33
Dysphagia (esophageal webs)
Glossitis
Iron deficiency
Anemia
Plummer-Vinson syndrome --> May progress to esophageal SCC.
34
Elastic skin
| Hypermobility of joints
EDS (type III collagen defect).
35
Enlarged, hard left supraclavicular node.
Virchow node - abdominal metastasis.
36
Erythroderma
Lymphadenopathy
HSM
Atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood).
37
```
Fever
Chills
Headache
Myalgia
following antibiotic treatment for syphilis.
```
Jarisch-Herxheimer reaction - rapid lysis of spirochetes results in toxin release.
38
```
Fever
Diffuse Rash
Cough
Conjunctivitis
Coryza
```
Measles
39
Fever
Night sweats
Weight loss
B symptoms
40
Fibrous plaques in soft tissue of penis
Peyronie disease (connective tissue disorder).
41
Gout
Intellectual disability
Selft-mutilating behavior in a boy
Lesch-Nyhan syndrome - HGPRT deficiency, X-linked recessive.
42
Green-yellow rings around peripheral cornea.
Kayser-Fleischer rings.
43
HSM
Osteoporosis
Neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)
44
Hereditary nephritis
Sensorineural hearing loss
Cataracts
Alport syndrome (mutation in collagen IV).
45
Hyperphagia
Hypersexuality
Hyperorality
Hyperdocility
Kluver-Bucy lesion - bilateral amygdala lesion.
46
Hyperreflexia
Hypertonia
Babinski (+)
UMN damage
47
Hyporeflexia
Hypotonia
Atrophy
Fasciculations
LMN damage
48
Hypoxemia
Polycythemia
Hypercapnia
"Blue bloatter" - chronic bronchitis.
49
Indurated, ulcerated genital lesion.
Nonpainful --> Chancre
| Painful, with exudate --> Chancroid --> H.ducreyi.
50
Infants with cleft lip/palate
Microcephaly or Holoprosencephaly
Polydactyly
Cutis aplasia
Patau (trisomy 13).
51
Infants with failure to thrive
HSM
Neurodegeneration
Niemann-Pick (genetic sphingomyelinase deficiency)
52
Infant with hypoglycemia
Failure to thrive
Hepatomegaly
1. Cori disease (debranching enzyme def.)
| 2. von Gierke (Glucose-6-phosphatase deficiency, more severe).
53
Infants with microcephaly
Rocker-bottom feet
Clenched hands
Structural heart defect
Edwards (trisomy 18)
54
Jaundice
| Palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree).
55
Large rash with bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite - Lyme disease: Borrelia.
56
Lucid interval after traumatic brain injury
Epidural hematoma - middle meningeal artery rupture.
57
Male child
Recurrent infections
No mature B cells
Bruton disease - X-linked agammaglobulinemia.
58
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia - defect in platelet aggregation due to lack of GpIIb/IIIa.
59
Muffled heart sounds
Distended neck veins
Hypotension
Beck triad of cardiac tamponade
60
Multiple colon polyps
Osteomas/soft tissue tumors
Impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
61
Myopathy (infantile hypertrophic cardiomyopathy)
| Exercise intolerance
Pompe disease (lysosomal α-1,4-glucosidase deficiency)
62
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy --> superior trunk (C5-C6) brachial plexus inury: "waiter's tip".
63
No lactation postpartum
Absent menstruation
Cold intolerance
Sheehan syndrome (pituitary infarction)
64
Nystagmus
Intention tremor
Scanning speech
Bilateral internuclear ophthalmoplegia
Multiple scleroris
65
Oscillating slow/fast breathing
Cheyne-Stokes respirations --> central apnea in CHF or Incr. intracranial pressure.
66
Painful blue fingers/toes
| Hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by M.pneumoniae, IM).
67
Painful
Pale
Cold fingers/toes
Raunaud phenomenon (vasospasm in extremities).
68
Painful, raised red lesions on pad of fingers/toes.
Osler nodes (IE, immune complex deposition).
69
Painless erythematous lesions on palms and soles
Janeway lesions - IE, septic emboli, microabscesses.
70
Painless jaundice
Cancer of the pancreatic head obstructing the bile duct.
71
Palpable purpura on buttocks/legs
Joint pain
Abdominal pain (child)
Hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys).
72
Pancreatic
Pituitary
Parathyroid tumors
MEN 1 (AD)
73
Periorbital and/or peripheral edema
Proteinuria
Hypoalbuminemia
HyperCH
Nephrotic syndrome
74
Pink complexion
Dyspnea
Hyperventilation
"Pink puffer" - emphysema - centriacinar (smoking), panacinar (alpha-1 antitrypsin.
75
```
Polyuria
Renal tubular acidosis type II
Growth failure
Electrolyte imbalances
Hypophosphatemic rickets
```
Fanconi syndrome - proximal tubule reabsorption defect.
76
Pruritic, purple, polygonal planar papules and plaques (6P's)
Lichen planus
77
Ptosis
Miosis
Anhydrosis
Horner (sympathetic chain lesion)
78
Pupil accomodates but doesn't react
Argyll-Robertson pupil (neurosyphilis).
79
Rapidly progressive leg weakness that ascends following GI/upper respiratory tract infection.
Guillain-Barre syndrome - acute autoimmune inflammatory demyelinating polyneuropathy.
80
Rash on palms and soles
1. Coxsackie A
2. 2o syphilis
3. RM spotted fever
81
Recurrent colds
Unusual eczema
High serum IgE
Hyper-IgE syndrome - Job syndrome: neutrophil chemotaxis abnormality.
82
Red "currant" jelly sputum in alcoholic or diabetic patients.
K.pneumoniae
83
Red "currant jelly" stools
Acute mesenteric ischemia - adults.
| Intussusception - infants.
84
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast - sign of UNDERLYING NEOPLASM
85
Red urine in the morning
| Fragile RBCs
Paroxysmal nocturnal hemoglobinuria
86
Renal cell carcinoma (bilateral)
Hemangioblastomas
Angiomatosis
Pheochromocytoma
von Hippel-Lindau
87
Resting tremor
Rigidity
Akinesia
Postural instability
Parkinson
88
Retinal hemorrhages with pale centers
Roth spots - Bacterial endocarditis
89
Severe jaundice in neonates.
Crigler-Najjar syndrome - congenital unconjugated hyperbilirubinemia
90
Severe RLQ pain with palpation of LLQ.
Rovsing sign - acute appendicitis.
91
Severe RLQ pain with rebound tenderness.
McBurney sign - Acute appendicitis.
92
Short stature
UP incidence of tumors/leukemia
Aplastic anemia
Fanconi anemia - genetic loss of DNA crosslink repair; often progresses to AML!
93
Single palmar crease
Down
94
Situs inversus
Chronic sinusitis
Bronchiectasis
Infertility
Kartagener syndrome - dynein arm defect affecting cilia.
95
Small irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles, rubeola virus).
96
Smooth, flat, moist, painless white lesions on genitals.
Condylomata lata (2o syphilis).
97
Splinter hemorrhages in finger nails.
Bacterial endocarditis
98
"Strawberry tongue"
1. Scarlet fever
2. Kawasaki
3. Toxic shock syndrome
99
```
Streak ovaries
Congenital heart disease
Horseshoe kidney
Cystic hygroma at birth
Short stature
Webbed neck
Lymphedema
```
Turner (45XO)
100
Sudden swollen/painful big toe joint, tophi.
Gout/Podagra (hyperuricemia).
101
Swollen gums
Mucosal bleeding
Poor wound healing
Petechiae
VitC def --> Can't hydroxylate proline/lysine for collagen synthesis.
102
Swollen, hard, painful finger joints.
Osteoarthritis - osteophytes on PIP (Bouchard nodes), DIP (Heberden nodes).
103
Systolic ejection murmur - crescendo/decrescendo.
Aortic valve stenosis
104
Thyroid
Parathyroid tumors
Pheochromocytoma
MEN2A (AD RET mutation)
105
Thyroid tumors
Pheochromocytoma
Ganglioneuromatosis
MEN2B (AD RET mutation)
106
Toe extension/fanning upon plantar scrape.
Babinski sign (UMN lesion)
107
Unilateral facial drooping involving forehead
Facial nerve (LMN CN VII palsy).
108
Urethritis
Conjunctivitis
Arthritis in a male
Reactive arthritis associated with HLA-B27.
109
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome).
110
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome - alcoholic and bulimic patients.
111
```
Weight loss
Diarrhea
Arthritis
Fever
Adenopathy
```
Whipple disease (trophyrema whipplei)
112
"Worst headache of my life"
Subarachnoid hemorrhage
113
Abdominal pain
Ascites
Hepatomegaly
Budd-Chiari syndrome - Post hepatic venous thrombosis.
