Classic Presentations Flashcards
abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (post-hepatic venous thrombosis)
Achilles tendon xanthoma
familial hypercholesterolemia (decreased LDL receptor signaling
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
+ anterior drawer sign
anterior cruciate ligament injury
aracnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin defect)
Athlete with polycythemia
2/2 erythropoietin injection
back pain, fever, night sweats, weight loss
Pott disease (vertebral TB)
bilateral hilar adenopathy, uveitis
sarcoidosis (non-caseating granuloma)
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 (increased osteoblastic and osteoclastic activity)
bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
“Butterfly” facial rash and Raynaud phenomenon in a young woman
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 protien signaling mutation)
Calf pseudohypertrophy
Duchenne muscular dystrophy
X-linked recessive deletion of dystrophin gene
“Cherry-red spots” on macula
Tay-Sachs (gangioside accumulation)
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 infeciousum/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 pyrophosphate deficiency
Cold intolerance
hypothyroidism
conjugate lateral gaze palsy, horizontal diplopia
internuclear ophthalmoplegia, damage to MLF
bilateral: MS, unilateral: stroke
continuous “machine-like” murmur
PDA
close with indomethacin, open/maintain with misoprostol
cutaneous/dermal edema due to connective tissue deposition
myxedema (2/2 hypothyroidism)
Graves dz - pretibial myxedema
dark purple skin/mouth nodules in a pt with AIDS
kaposi sarcoma
associated with HHV8
Deep, labored breathing/hyperventilation
Kussmaul respirations (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
Pasteurella multocida (cellulitis as inoculation site)
dry eyes, dry mouth, arthritis
Sjogren 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, lymphadeopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) Sezary syndrome (mycosis fungoides + malignant T cells in blood)
facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
fat, female, forty and fertile
cholelithiasis
fever, chills, headache, myalgia following antibiotic tx for syphillis
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 disease)
green-yellow rings around peripheral cornea
Kayse-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, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)