FA Rapid Review: Classic Presentations Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (post hepatic venous thrombosis
achilles tendon xanthoma
Familial hypercholesterolemia (decrease LDL receptor signaling)
adrenal hemmorrhage, hypotension, DIC
Waterhouse-Friderichsen Syndrome (meningococcemia)
arachnodactyly, lens dislocaiton, aortic dissection, hyperflexible joints
Marfan’s syndrome (fibrilling 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 enlargemnt, arthritis
Paget’s disease of bone (increase osteoblastic and osteoclastic activity)
bouding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
“butterfly” facial rash and Raynaud’s phenomenon in young female
Systemic Lupus erythematosus
Café au lait spots, Lisch Nodules (iris hamartoma)
Neurofibromatosis type I (+ pheocromocytoma, optic gliomas)
Café au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrin abnormalities
McCune-Albright syndrome (mosiac G-protein signalling mutation)
calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne’s): X-linked recessive deletion of dystrophin gene</p>
“cherry-red spot” on macula
Tay-Sachs (ganglioside accumulation), or Neimann- 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 arm 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’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 opathmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Constant “machinery” heart murmur
PDA (close with indomethacin; open or maintain with misoprostol
cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hyperthyroidism, Graves’ disease[pretibial])
Dark purple skin/mouth nodules
Kaposi’s sarcoma (usually AIDS pts [MSM]: associated with HHV-8)
Deep, labored breathing/ hyperventilation
Kussmaul breathing (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
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 nodes (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
Cholelthiasis (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 (Morbillivirus)
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
<p>Fibrous plaques in soft tissue of penis
</p>
Peyronie’s disease (connective tissue disorder)
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Green-yellow rinks around peripheral cornea
Kayser-Fleisher 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)</p>
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher’s disease (glucocerebrosidase deficiency
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in alpha chain of collagen IV)