First Aid USMLE 1 - Rapid Review Common Presentations Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolemia ( LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection,
hyperflexible joints
Marfan syndrome (fibrillin defect)
Athlete with polycythemia
2° to erythropoietin injection
Back pain, fever, night sweats, weight loss
Pott disease (vertebral TB)
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
Bluish line on gingiva
Burton line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget disease of bone ( osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
“Butterfly” facial rash and Raynaud phenomenon in a young female
Systemic lupus erythematosus
Café-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+ pheochromocytoma, optic
gliomas)
Café-au-lait spots, polyostotic fibrous dysplasia, precocious
puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling
mutation)
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene
“Cherry-red spots” on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick
(sphingomyelin accumulation), central retinal artery occlusion
Chest pain on exertion
Angina (stable: with moderate exertion; unstable: with
minimal exertion)
Chest pain, pericardial effusion/friction rub, persistent fever
following MI
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1–12 weeks after acute episode)
Child uses arms to stand up from squat
Gowers sign (Duchenne muscular dystrophy)
Child with fever later develops red rash on face that spreads to body
“Slapped cheeks” (erythema infectiosum/fifth disease:
parvovirus B19)
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful
cramps, myoglobinuria
McArdle disease (muscle glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Continuous “machine-like” heart murmur
PDA (close with indomethacin; open or maintain with
misoprostol)
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
Deep, labored breathing/hyperventilation
Kussmaul respirations (diabetic ketoacidosis)
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B1] deficiency)
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjögren syndrome (autoimmune destruction of exocrine
glands)
Dysphagia (esophageal webs), glossitis, iron deficiency
anemia
Plummer-Vinson syndrome (may progress to esophageal
squamous cell carcinoma)
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
Erythroderma, lymphadenopathy, hepatosplenomegaly,
atypical T cells
Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood)
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
Fat, female, forty, and fertile
Cholelithiasis (gallstones)
Fever, chills, headache, myalgia following antibiotic
treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease
[pretibial])
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
Fibrous plaques in soft tissue of penis
Peyronie disease (connective tissue disorder)
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked
recessive)
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson
disease)
Hamartomatous GI polyps, hyperpigmentation of
mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can
cause bowel obstruction; cancer risk, mainly GI)
Hepatosplenomegaly, osteoporosis, neurologic
symptoms
Gaucher disease (glucocerebrosidase deficiency)
Indurated, ulcerated genital lesion
Nonpainful: chancre (1° syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)
Hereditary nephritis, sensorineural hearing loss,
cataracts
Alport syndrome (mutation in collagen IV)
Hyperphagia, hypersexuality, hyperorality,
hyperdocility
Klüver-Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Hypoxemia, polycythemia, hypercapnia
“Blue bloater” (chronic bronchitis: hyperplasia of mucous
cells)
Infant with cleft lip/palate, microcephaly or
holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
Infant with failure to thrive, hepatosplenomegaly, and
neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycemia, failure to thrive, and hepatomegaly
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
Edwards syndrome (trisomy 18)
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
Large rash with bull’s-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme
disease: Borrelia)
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)