USMLE Step 1 Rapid Review
Study online at https://quizlet.com/_3ek56
1. Abdominal pain, ascites, hepatomegaly, (also high D dimer, CHF without
JVD): Budd-Chiari syndrome
2. Achilles tendon xanthoma: Familial hypercholesterolemia
3. Adrenal hemorrhage, hypotension, DIC: Waterhouse-Friderichsen syndrome
(meningococcemia)
4. Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints: -
Marfan's (fibrillin defect)
5. Athlete with polycythemia: Erythropoietin injection
6. Back pain, fever, night sweats, weight loss: Pott's (TB to the vertebrae)
7. Bilateral hilar adenopathy, uveitis: Sarcoid
8. Blue sclera: Osteogenesis imperfecta
9. Bluish line on gingiva: Burton's line - lead poisoning
10. Bone pain, bone enlargement, arthritis, (also increased hat size, fracture,
increased alk phos): Paget's
11. Bounding pulses, diastolic hear murmur, head bobbing: Aortic regurg
12. Café-au-lait spots, Lisch nodules: NF (1 = optic glimoas and pheo, 2 =
acoustic Schwannomas)
13. Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty: Mc-
Cune-Albright syndome (G protein problem)
14. Calf pseudohypertrophy: Duchenne's muscular dystrophy
15. Cherry-red spot on macula: Tay-Sachs, Niemann-Pick, central retinal artery
occlusion
16. Chest pain, pericardial effusion/friction rub, persistent fever following MI-
: Dressler's (autoimmune post-MI)
17. Child uses arms to stand up from squat: Gower's sign (Duchenne's)
18. Child with fever develops red rash on face that spreads to body: Slapped
cheek - B19
19. Chorea, dementia, caudate degeneration: Huntington's
20. Chronic exercise intolerance with myalgia, fatigue, painful cramps: McAr-
dle's (muscle phosphorylase deficiency)
21. Cold intolerance: Hypothyroidism
22. Conjugate lateral gaze palsy, horizontal diplopia: Internuclear ophthalmople-
gia (MS or stroke)
23. Continuous machinery heart murmur: PDA
24. Cutaneous/dermal edema due to CT expansion: Myxedema
25. Dark purple skin / mouth nodules: Kaposi's sarcoma
26. Deep, labored breathing / hyperventilation: Kussmaul breathing, DKA
27. Dermatitis, dementia, diarrhea: Pellagra (B3 / niacin deficiency)
1/9
, USMLE Step 1 Rapid Review
Study online at https://quizlet.com/_3ek56
28. Dilated cardiomyopathy, edema, polyneuropathy: Wet beriberi (B1 / thiamine
deficiency)
29. Dog or cat bite resulting in infection: Pasteurella multocida (local cellulitis)
30. Dry eyes, dry mouth, arthritis: Sjogren's syndrome
31. Dysphagia (esophageal webs), glossitis (smooth tongue), iron deficiency
anemia: Plummer-Vinson syndrome
32. Elastic skin, hypermobility of joints: Ehler-Danlos (type III collagen)
33. Enlarged. hard left supraclavicular node: VIrchow's node (abdominal met)
34. Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells: -
Sezary syndrome (cutaneous T cell lymphoma)
35. Facial muscle spasm upon tapping: Chvostek's sign (hypocalcemia)
36. Fat, female, fertile, forty: Gallstones
37. Fever, chills, headache, myalgia following antibiotic treatment for syphillis-
: Jarisch-Herxheimer reaction (lysis of spirochetes results in toxin release)
38. Fever, cough, conjunctivitis, coryza, diffuse rash, Koplick spots: Measles
39. Fever, night sweats, weight loss: B symptoms or TB
40. Fibrous plaques in soft tissue of penis: Peyronie's disease
41. Gout, MR, self-mutilating behavior in a boy: Lesch-Nyhan syndrome (HGPRT
deficiency, X-linked recessive)
42. Green-yellow rings around peripheral iris: Kayser-Fleischer rings (copper
accumulation from Wilson's disease)
43. Hamartomatous GI polyps, hyperpigmentation of mouth, feet and hands: -
Peutz-Jeghers syndrome
44. Hepatosplenomegaly, osteoporosis, neurologic symptoms, crinkled cyto-
plasm: Gaucher's disease (glucocerebrosidase deficiency)
45. Hereditary nephritis, sensorineural hearing loss, cataracts: Alport's syn-
drome (type IV collagen)
46. Hypercoagulability leading to thrombophlebitis: Trousseau's sign (adeno-
carcinoma of pancreas or lung)
47. Hyperphagia, hypersexuality, hyperorality, hyperdocility: Kluver-Bucy syn-
drome (bilateral amygdala)
48. HTN, hypoK, metabolic alkalosis: Conn's (1* hyperaldosterone)
49. Hypoxemia, polycythemia, hypercapnia: Blue bloater (chronic bronchitis)
50. Indurated, ulcerated genital lesion: Nonpainful = syphillis. Painful with exudate
= chancroid
51. Infant with failure to thrive, hepatosplenomegaly, neurodegeneration: Nie-
mann-Pick disease (genetic sphingomyelinase deficiency)
52. Infant with hypoglycemia, failure to thrive, and hepatomegaly: Cori's dis-
ease (debranching enzyme deficiency, no glycogenolysis) or Von Gierke's
2/9
Study online at https://quizlet.com/_3ek56
1. Abdominal pain, ascites, hepatomegaly, (also high D dimer, CHF without
JVD): Budd-Chiari syndrome
2. Achilles tendon xanthoma: Familial hypercholesterolemia
3. Adrenal hemorrhage, hypotension, DIC: Waterhouse-Friderichsen syndrome
(meningococcemia)
4. Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints: -
Marfan's (fibrillin defect)
5. Athlete with polycythemia: Erythropoietin injection
6. Back pain, fever, night sweats, weight loss: Pott's (TB to the vertebrae)
7. Bilateral hilar adenopathy, uveitis: Sarcoid
8. Blue sclera: Osteogenesis imperfecta
9. Bluish line on gingiva: Burton's line - lead poisoning
10. Bone pain, bone enlargement, arthritis, (also increased hat size, fracture,
increased alk phos): Paget's
11. Bounding pulses, diastolic hear murmur, head bobbing: Aortic regurg
12. Café-au-lait spots, Lisch nodules: NF (1 = optic glimoas and pheo, 2 =
acoustic Schwannomas)
13. Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty: Mc-
Cune-Albright syndome (G protein problem)
14. Calf pseudohypertrophy: Duchenne's muscular dystrophy
15. Cherry-red spot on macula: Tay-Sachs, Niemann-Pick, central retinal artery
occlusion
16. Chest pain, pericardial effusion/friction rub, persistent fever following MI-
: Dressler's (autoimmune post-MI)
17. Child uses arms to stand up from squat: Gower's sign (Duchenne's)
18. Child with fever develops red rash on face that spreads to body: Slapped
cheek - B19
19. Chorea, dementia, caudate degeneration: Huntington's
20. Chronic exercise intolerance with myalgia, fatigue, painful cramps: McAr-
dle's (muscle phosphorylase deficiency)
21. Cold intolerance: Hypothyroidism
22. Conjugate lateral gaze palsy, horizontal diplopia: Internuclear ophthalmople-
gia (MS or stroke)
23. Continuous machinery heart murmur: PDA
24. Cutaneous/dermal edema due to CT expansion: Myxedema
25. Dark purple skin / mouth nodules: Kaposi's sarcoma
26. Deep, labored breathing / hyperventilation: Kussmaul breathing, DKA
27. Dermatitis, dementia, diarrhea: Pellagra (B3 / niacin deficiency)
1/9
, USMLE Step 1 Rapid Review
Study online at https://quizlet.com/_3ek56
28. Dilated cardiomyopathy, edema, polyneuropathy: Wet beriberi (B1 / thiamine
deficiency)
29. Dog or cat bite resulting in infection: Pasteurella multocida (local cellulitis)
30. Dry eyes, dry mouth, arthritis: Sjogren's syndrome
31. Dysphagia (esophageal webs), glossitis (smooth tongue), iron deficiency
anemia: Plummer-Vinson syndrome
32. Elastic skin, hypermobility of joints: Ehler-Danlos (type III collagen)
33. Enlarged. hard left supraclavicular node: VIrchow's node (abdominal met)
34. Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells: -
Sezary syndrome (cutaneous T cell lymphoma)
35. Facial muscle spasm upon tapping: Chvostek's sign (hypocalcemia)
36. Fat, female, fertile, forty: Gallstones
37. Fever, chills, headache, myalgia following antibiotic treatment for syphillis-
: Jarisch-Herxheimer reaction (lysis of spirochetes results in toxin release)
38. Fever, cough, conjunctivitis, coryza, diffuse rash, Koplick spots: Measles
39. Fever, night sweats, weight loss: B symptoms or TB
40. Fibrous plaques in soft tissue of penis: Peyronie's disease
41. Gout, MR, self-mutilating behavior in a boy: Lesch-Nyhan syndrome (HGPRT
deficiency, X-linked recessive)
42. Green-yellow rings around peripheral iris: Kayser-Fleischer rings (copper
accumulation from Wilson's disease)
43. Hamartomatous GI polyps, hyperpigmentation of mouth, feet and hands: -
Peutz-Jeghers syndrome
44. Hepatosplenomegaly, osteoporosis, neurologic symptoms, crinkled cyto-
plasm: Gaucher's disease (glucocerebrosidase deficiency)
45. Hereditary nephritis, sensorineural hearing loss, cataracts: Alport's syn-
drome (type IV collagen)
46. Hypercoagulability leading to thrombophlebitis: Trousseau's sign (adeno-
carcinoma of pancreas or lung)
47. Hyperphagia, hypersexuality, hyperorality, hyperdocility: Kluver-Bucy syn-
drome (bilateral amygdala)
48. HTN, hypoK, metabolic alkalosis: Conn's (1* hyperaldosterone)
49. Hypoxemia, polycythemia, hypercapnia: Blue bloater (chronic bronchitis)
50. Indurated, ulcerated genital lesion: Nonpainful = syphillis. Painful with exudate
= chancroid
51. Infant with failure to thrive, hepatosplenomegaly, neurodegeneration: Nie-
mann-Pick disease (genetic sphingomyelinase deficiency)
52. Infant with hypoglycemia, failure to thrive, and hepatomegaly: Cori's dis-
ease (debranching enzyme deficiency, no glycogenolysis) or Von Gierke's
2/9
