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)
Indurated, ulcerated genital lesion - Answer-Nonpainful: chancre (1° syphilis,
Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi)
Infant with "cherry-red" spot on macula, hepatosplenomegaly, and
neurodegeneration - Answer-Niemann-Pick disease (genetic sphingomyelinase
deficiency)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis
aplasia - Answer-Patau syndrome (trisomy 13)
Infant with hypoglycemia, hepatomegaly - Answer-Cori disease (debranching
enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more
severe)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart
defect - Answer-Edwards syndrome (trisomy 18)
Jaundice, palpable distended non-tender gallbladder - Answer-Courvoisier sign
(distal obstruction of biliary tree)
Large rash with bull's-eye appearance - Answer-Erythema chronicum migrans from
Ixodes tick bite (Lyme disease: Borrelia)
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)
Indurated, ulcerated genital lesion - Answer-Nonpainful: chancre (1° syphilis,
Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi)
Infant with "cherry-red" spot on macula, hepatosplenomegaly, and
neurodegeneration - Answer-Niemann-Pick disease (genetic sphingomyelinase
deficiency)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis
aplasia - Answer-Patau syndrome (trisomy 13)
Infant with hypoglycemia, hepatomegaly - Answer-Cori disease (debranching
enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more
severe)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart
defect - Answer-Edwards syndrome (trisomy 18)
Jaundice, palpable distended non-tender gallbladder - Answer-Courvoisier sign
(distal obstruction of biliary tree)
Large rash with bull's-eye appearance - Answer-Erythema chronicum migrans from
Ixodes tick bite (Lyme disease: Borrelia)
