Classic 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’s syndrome (fibrillin defect)
Athlete with polycythemia
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 (collagen defect)
Bluish line on gingiva
Burton’s line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget’s disease of bone (↗osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
Butterfly facial rashand Raynaud’s phenomenon in a young female
SLE
Café-au-lait spots, Lisch bodules (iris hamartoma)
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas); Neurofibromatosis type Ii(+ bilateral acoustic neuromas)
Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne’s): X-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: moderate exertion; unstable: minimal exertion)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler’s syndrome (autoimmune-mediated post-MU firbinous pericarditis, 1-12weeks after acute episode)
Child uses arms to stand up from squat
Gowers’ sign (Duchenne muscular dystrophy)
Child with fever develops red rash on face that spreads to body
Slapped cheeks (erythema infectiosum/fifth disease: parvovirus B19)
Chorea, dementia, caudate degeneration
Huntingtons disease (auto-D CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle’s disease (uscle glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Continuous “machinery” heart murmur
PDA (close with indomethacin; open with misoprostol)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothroidism, Graves’ disease [periorbital])
Dark purple skin/mouth nodules
Kaposi sarcoma (usually AID patients [gay men]: associated with HHV-8)
Deep, labored breathing/hyperventilation
Kussmaul breathing )diabetic ketoacidosis)
Dermatitis, dementia, diarrhea
Pellagra (niacin [Vitamin B3] deficiency)
Dilated cardiomyopathy, edema, polyneuropathy
Wet beriberi (thiamine [Vitamin B1] deficiency)
Dog or cat bite resulting in infection
Pasteurella 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, hypermobilit of joints
Ehlers-Danlos syndrome (type III collagen defect)
Enlarged, hard left supraclavicular node
Virchow’s node (abdominal metastasis)
Erythroderma, lynphadenopathy, hepatosplenomegaly, atypical T cells
Sezard sundrome (cutaneous T-cell lymphoma) or mycosis fungoides
Facial muscle spasm upon tapping
Chvostek’s sign (hypocalcemia)
Fat, female, forty, and fertile
Acute cholelithiasis (bile duct blockage)
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
Fever night sweats, weight loss
B symptoms (lymphoma)
Fibrous plaques in soft tissue of penis
Peyronie’s disease (connective tissue disorder)
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-recessive)
Green-yellow rings around perpheral cornea
Kayser-Fleicher rings (Copper accumulation from Wilson’s disease)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (genetic benign polyposis can cause bowerl obstruction; ↗cancer risk)
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher’s disease (glucocerebrosidase deficiency)