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