Rapid Review: Classic Presentations Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friederichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan’s syndrome (fibrillin defect)
Athlete with polycythemia
Secondary to erythropoietin injection
Back pain, fever, night sweats, weight loss
Pott’s disease (vertebral tuberculosis)
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
Bluish line on gingiva
Burton’s line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget’s disease of bone (increased osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
aortic regurgitation
Butterfly facial rash and Raynaud’s phenomenon in a young female
SLE
Cafe-au-lait spots, Lische nodules (iris hamartoma)
NF1 (+ pheochromocytoma, optic gliomas)
Cafe-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’s): X-linked recessive deletion of dystrophin gene
Cherry-red spot 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’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from squat
Gower’s sign (Duchenne’s muscular dystrophy)
Child with fever later develops red rash on face that spreads to body
Slapped checks (erythema infectiosum/fifth disease: parvovirus B19)
Chorea, dementia, caudate degeneration
Huntington’s disease (autosomal dominant CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle’s disease (muscle glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear opthalmoplegia (damage to MLF; bilateral –> multiple sclerosis, unilateral –> stroke)
Continuous machinery heart murmur
PDA (close with indomethicin; open or maintain with misoprostol)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves’ disease [pretibial])
Dark purple skin/mouth nodules
Kaposi’s sarcoma (usually AIDS presents [MSM]: associated with HHV-8)
Deep, labored breathing/hyperventilation
Kussmaul breathing (DKA)
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
Pasturella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjogren’s 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’s node (abdominal metastasis)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
Facial muscle spasm upon tapping
Chvostek’s sign (hypocalcemia)
Fat, female, forty, and fertile
Cholelithiasis (gallstones)
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch0Herzheimer reaction (rapid lysis of spirochetes results in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
Fibrous plaques in soft tissue of penis
Peyronie’s disease (connective tissue disorder)
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyan syndrome (HGPRT deficiency, X-linked recessive)
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson’s disease)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
Hepatosplenomegaly, osteroporosis, neurologic symptoms
Gaucher’s disease (glucocerebrosidase deficiency)