Abdominal pain, ascites, and hepatomegaly - *answers *Budd-Chiari syndrome
(posthepatic venous thrombosis)
-Absence of JVD
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use - *answers *Clostridium
difficile infection
Achilles tendon xanthoma - *answers *Familial hypercholesterolemia (decreased LDL
receptor signaling)
Adrenal hemorrhage, hypotension, DIC - *answers *Waterhouse-Friderichsen
syndrome (menengococcemia)
Anaphylaxis following blood transfusion - *answers *IgA deficiency
Anterior "drawer sign" ⊕ - *answers *Anterior cruciate ligament injury
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints - *answers
*Marfan syndrome (fibrillin defect)
Athlete with polycythemia - *answers *2° to erythropoietin injection
Back pain, fever, night sweats - *answers *Pott disease (vertebral TB)
Bilateral acoustic schwannomas - *answers *Neurofibromatosis type 2
Bilateral hilar adenopathy, uveitis - *answers *Sarcoidosis (noncaseating granulomas)
Black eschar on face of patient with diabetic ketoacidosis - *answers *Mucor or
Rhizopus fungal infection
Blue sclera, brittle bones - *answers *Osteogenesis imperfecta (type I collagen defect)
Bluish line on gingiva - *answers *Burton line (lead poisoning)
Bone pain, bone enlargement, arthritis - *answers *Paget disease of bone (osteoblastic
and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing - *answers *Aortic regurgitation
"Butterfly" facial rash and Raynaud phenomenon in a young female - *answers
*Systemic lupus erythematosus
,First Aid-USMLE STEP 1 High Yield
Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas,
pheochromocytomas, optic gliomas - *answers *Neurofibromatosis type I,
pheochromocytoma, optic gliomas
Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple
endocrine abnormalities - *answers *McCune-Albright syndrome (mosaic G-protein
signaling mutation)
Calf pseudohypertrophy - *answers *Muscular dystrophy (most commonly Duchenne,
due to X-linked recessive frameshift mutation of dystrophin gene)
Child with cervical lymphadenopathy, desquamating rash, coronary aneurysms, red
conjunctivae and tongue - *answers *Kawasaki disease (treat with IVIG and aspirin)
"Cherry-red spots" on macula - *answers *Tay-Sachs (ganglioside accumulation) or
Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
Chest pain on exertion - *answers *Angina (stable: with moderate exertion; unstable:
with minimal exertion or at rest)
Chest pain, pericardial effusion/friction rub, persistent fever following MI - *answers
*Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks
after acute episode
Chest pain with ST depressions on EKG - *answers *Unstable angina (troponins −) or
NSTEMI (troponins +)
Child uses arms to stand up from squat - *answers *Gowers sign (Duchenne muscular
dystrophy)
Child with fever later develops red rash on face that spreads to body - *answers
*"Slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19)
Chorea, dementia, caudate degeneration - *answers *Huntington disease (autosomal
dominant CAG repeat expansion)
Chorioretinitis, hydrocephalus, intracranial calcifications - *answers *Congenital
toxoplasmosis
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria -
*answers *McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
Cold intolerance - *answers *Hypothyroidism
,First Aid-USMLE STEP 1 High Yield
Conjugate horizontal gaze palsy, horizontal diplopia - *answers *Internuclear
ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
Continuous "machine-like" heart murmur - *answers *PDA (close with indomethacin;
open or maintain with PGE analogs)
Cutaneous/dermal edema due to connective tissue deposition - *answers *Myxedema
(caused by hypothyroidism, Graves disease [pretibial])
Cutaneous flushing, diarrhea, bronchospasm - *answers *Carcinoid syndrome (right-
sided cardiac valvular lesions, 5-HIAA)
Dark purple skin/mouth nodules in a patient with AIDS - *answers *Kaposi sarcoma,
associated with HHV-8
Deep, labored breathing/hyperventilation - *answers *Kussmaul respirations (diabetic
ketoacidosis)
Dermatitis, dementia, diarrhea - *answers *Pellagra (niacin [vitamin B3] deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition - *answers *Wet beriberi
(thiamine [vitamin B1] deficiency)
Dog or cat bite resulting in infection - *answers *Pasteurella multocida (cellulitis at
inoculation site)
Dry eyes, dry mouth, arthritis - *answers *Sjögren syndrome (autoimmune destruction
of exocrine glands)
Dysphagia (esophageal webs), glossitis, iron deficiency anemia - *answers *Plummer-
Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Elastic skin, hypermobility of joints, bleeding tendency - *answers *Ehlers-Danlos
syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of
ED)
Enlarged, hard left supraclavicular node - *answers *Virchow node (abdominal
metastasis)
Episodic vertigo, tinnitus, hearing loss - *answers *Meniere disease
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells - *answers
*Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis
fungoides + malignant T cells in blood)
, First Aid-USMLE STEP 1 High Yield
Facial muscle spasm upon tapping - *answers *Chvostek sign (hypocalcemia)
Fat, female, forty, and fertile - *answers *Cholelithiasis (gallstones)
Fever, chills, headache, myalgia following antibiotic treatment of syphilis - *answers
*Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash - *answers *Measles
Fever, night sweats, weight loss - *answers *B symptoms (staging) of lymphoma
Fibrous plaques in soft tissue of penis with abnormal curvature - *answers *Peyronie
disease (connective tissue disorder)
Golden brown rings around peripheral cornea - *answers *Kayser-Fleischer rings
(copper accumulation from Wilson disease)
Gout, intellectual disability, self-mutilating behavior in a boy - *answers *Lesch-Nyhan
syndrome (HGPRT deficiency, X-linked recessive)
Hamartomatous GI polyps, hyperpigmentation of Peutz-mouth/feet/hands/genitalia -
*answers *Jeghers syndrome (inherited, benign polyposis can cause bowel
obstruction;cancer risk, mainly GI)
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone
crises - *answers *Gaucher disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts - *answers *Alport syndrome
(mutation in collagen IV)
Hyperphagia, hypersexuality, hyperorality, hyperdocility - *answers *Klüver-Bucy
syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonia, Babinski sign present - *answers *UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations - *answers *LMN damage
Hypoxemia, polycythemia, hypercapnia - *answers *"Blue bloater" (chronic bronchitis:
hyperplasia of mucous cells)
Indurated, ulcerated genital lesion - *answers *Nonpainful: chancre (1° syphilis,
Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi)
Infant with "cherry-red" spot on macula, hepatosplenomegaly, and neurodegeneration -
*answers *Niemann-Pick disease (genetic sphingomyelinase deficiency)