Classic Presentations Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolemia (less 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
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 1 collagen defect)
Bluish line on gingiva
Burton’s line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget’s diesease of bone (Increase in osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
“Butterfly” facial rach and Raynaud’s phenomenon in you female
Systemic lupus erythematosus
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+ 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 accululation), 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 (AI-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 infectionsum/fifth disease: parvovirus B19)
Chorea, dementia, caudate degeneration
Huntington’s disease (autosomal-dominated CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle’s disease (muscle glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmolplegia (damage to MLF; bilateral {multiple sclerosis}, unilateral {stroke})
Continuous “machinery” heart murmur
PDA (close with indomethacin; 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 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)
Anterior “drawer sign”
Anterior cruciate ligament injury
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B 1] 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)
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; Increases cancer risk, mainly GI)
Hepatosplenomegaly, osteoporosis, neurologic
symptoms
Gaucher disease (glucocerebrosidase deficiency)