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Abdominal pain, ascites, hepatomegaly Budd Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma Familial hypercholesterolemia (Decrease LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC Waterhouse-Friderichsen syndrome (meningococcemia)
Athlete with polycythemia Erythropoietin injection
Back pain, fever, night sweats, weight loss Potts disease (vertebral TB)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints Marfans syndrome
Bilateral hilar adenopathy, uveitis Sarcoidosis (noncaseating granulomas)
Blue sclera Osteogenesis imperfecta (collagen defect)
Bluish line on gingiva Burton's line (LEAD poisoning)
Bone pain and enlargement, arthritis Pagets disease (increase osteoblastic and osteoclastic activity)
Bounding pulses, head bobbing, diastolic heart murmur Aortic regurgitation
Butterfly facial rash, Raynauds phenomenon, young female Systemic lupus erythematosus
Cafe au lait spots, lisch nodules Neurofibromatosis Type 1 (+pheochromocytoma, optic gliomas); Type 2 (+bilateral acoustic neuromas)
Cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty McCune Albright syndrome (mosaic G protein signaling mutation)
Calf pseudohypertrophy Muscular dystrophy (most comm Duchenne): X linked recessive deletion of dystrophin gene
"Cherry red" spot on macula Tay Sachs (ganglioside accumulation, def of Hexosaminidase A) or Niemann Pick (sphingomyelin accumulation), central retinal artery occlusion
Chest pain on exertion Angina (stable = w/mod exertion, unstable = w/minimal exertion)
Chest pain, pericardial effusion/friction rub, persistent fever following MI Dressler's syndrome (autoimmune mediated post MI fibrinous pericarditis, 1-12 wks after acute episode)
Child uses arms to stand up from squat Gower's sign (Duchenne muscular dystrophy)
Child w/fever develops red rash on face that spreads to body "Slapped cheeks" (erythema infectiosum, 5th disease, parvovirus B19)
Chorea, dementia, caudate degeneration Huntington's disease (aut dominant, CAG repeats)
Chronic exercise intolerance w/myalgia, fatigue, painful cramps, myoglobinura McArdle's disease (muscle glycogen phosphorylase deficiency)
Cold intolerance Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Machinery heart murmur PDA (close with indomethacin, open with misoprostol)
Cutaneous/dermal edema, due to connective tissue deposition Myxedema (caused by hypothyroidism, Graves disease [periorbital])
Dark purple skin/mouth nodules Kaposi's sarcoma, usually AIDS pts, 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 @ infection site)
Dry mouth, Dry eyes, Arthritis Sjogrens syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esophageal webs), glossitis, iron def 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 VIRCHOWS 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, Fertile Bile duct blockage (acute cholelithiasis)
Fever, chills, headache, myalgia following Abx tx for syphilis Jarisch-Herxheimer reaction (rapid lysis of spirochetes causes toxin release)
Fever, cough, conjunctivitis, diffuse rash, coryza Measles (morbillivirus)
Fever, night sweats, weight loss B symptoms (lymphoma)
Fibrous plaques in soft tissue of penis Peyronnies disease
Gout, mental retardation, self-mutilating behavior in a boy Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Green-yellow rings around peripheral cornea Kayser-Fleischer rings (Wilson's disease, copper accumulation)
Hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction, increase cancer risk)
Hepatosplenomegaly, osteoporosis, neurologic symptoms Gaucher's disease (glucocerebrocidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts Alport syndrome (mutation in alpha chain of collagen IV)
Hypercoagulability leading to migrating DVTs and vasculitis Trousseau's sign (adenocarcinoma of pancreas or lungs)
Hyperphagia, hyperorality, hypersexuality, hyperdocility Kluver-Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonia, + Babinski sign UMN damage
Hypertension, hypokalemia, metabolic alkalosis Conn's syndrome (aldosterone producing adenoma)
Hyporeflexia, hypotonia, atropy LMN damage
Hypoxemia, polycythemia, hypercapnia "BLUE bloater" (chronic bronchitis, hyperplasia of mucous cells)
Indurated, ulcerated, genital lesion Nonpainful: primary syphilis (Treponemia pallidum) Painful, w/exudate: chancroid (Haemophilus ducreyi)
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration Niemann Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycemia, failure to thrive, hepatomegaly Cori's disease (debranching enzyme deficiency)
Infant w/microcephaly, rocker bottom feet, clenched hands, structural heart defect Edwards syndrome (trisomy 18)
Keratin pearls on a skin biopsy Squamous cell carcinoma
Large rash w/ bulls eye appearance Erythema chronicum migrans, from Ixodes tick bite (Lyme disease)
Lucid interval after traumatic brain injury Epidural hematoma (middle meningeal artery rupture)
Male child, recurrent infections, no mature B cells Bruton's disease (x-linked agammaglobulinemia)
Mucosal bleeding, prolonged bleeding time Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth Gardner's syndrome (subtype of FAP)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance Pompe's disease (lysosomal a-1,4-glucocidase deficiency
Necrotizing vasculitis (lungs), necrotizing glomerulonephritis Wegener's (c-ANCA +) and Goodpasture (anti-GBM)
Neonate w/arm paralysis following difficult birth Erb-Duchenne palsy, superior trunk (C5-6), brachial plexus injury, "waiters tip"
No lactation postpartum, absent menstruation, cold intolerance Sheehan's syndrome (pituitary infarction)
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia Multiple Sclerosis
Oscillating slow/fast breathing Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
Painful blue fingers/toes, hemolytic anemia Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
Painful raised red lesions on palms and soles Oslers nodes - infective endocarditis
Painless erythematous lesions on palms and soles Janeway lesions - infective endocarditis
Painful cold fingers/toes Raynauds syndrome
Painless jaundice Cancer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain, abd pain (child) Henoch-Schonlein Purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors MEN 1 (aut dom)
Pink complexion, hyperventilation, dyspnea Pink puffer - emphysema (centroacinar = smoking; panacinar = a1-antitrypsin deficiency)
Polyuria, acidosis, growth failure, electrolyte imbalances Faconi's syndrome (PT reabsorption defect)
Positive anterior "drawer sign" ACL injury
Ptosis, miosis, anhidrosis Horner's syndrome (sympathetic chain lesions)
Pupil accommodates, but doesn't react Argyll Robertson pupil (neurosyphilis)
Rapidly progressive leg weakness that ascends (following GI/URI) Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
Rash on palms and soles Coxsackie A, secondary syphilis, RMSF
Recurrent colds, unusual eczema, high serum IgE Hyper-IgE syndrome
Recurrent "currant jelly" sputum in alcoholic or diabetic pts Klebsiella pneumoniae
Red itchy swollen rash of nipple Pagets disease of the breast (represents underlying neoplasm)
Red urine in the morning, fragile RBCs Paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma, bilateral, hemangioblastomas, angiomatosis, phenochromocytoma VHL
Resting tremor, rigidity, akinesia, postural instability Parkinson's disease
Retinal hemorrhages with pale centers Roth spots - bacterial endocarditis
Severe jaundice in neonate Crigler-Najjar (unconjugated hyperbilirubinemia)
Severe RLQ pain w/rebound tenderness McBurney's sign (appendicitis)
Short stature, increase incidence of tumors, leukemia, aplastic anemia Faconi's anemia (genetic loss of DNA crosslink repair, often progresses to AML)
Single palm crease Simian crease - Down syndrome
Situs inversus, chronic sinusitis, bronchiectasis, infertility Kartagener's syndrome (dynein arm defect affecting cilia)
Skin hyperpigmentation Addison's disease (primary adrenocortical insufficiency causes increase ACTH and alpha-MSH production)
Slow progressive muscle weakness in boys Beckers muscular dystrophy (X linked missense mutation in dystrophin, less severe than Duchenne)
Small, irregular red spots on buccal/lingual mucosa, with blue-white centers Koplick spots - measles - rubeola virus
Smooth, flat, moist, white lesions on genitals Condylomata lata (2ndary syphilis)
Splinter hemorrhages in fingernails Bacterial endocarditis
Strawberry tongue Scarlet fever, Kawasaki disease, TSS
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma @ birth Turner syndrom, 45XO (short stature, webbed neck, lymphedema)
Sudden swollen big painful toe joint Gout/podagra (hyperuricemia)
Swollen gums, mucous bleeding, poor wound healing, spots on skin Scurvy (Vit C deficiency) --- can't hydroxylate proline/lysine for collagen synthesis
Swollen hard, painful, finger joints Osteoarthritis - Bouchard nodes: PIP Heberden's nodes: DIP
Systolic ejection murmur Aortic valve stenosis
Toe extension/fanning upon plantar scrape Babinski sign (UMN lesion)
Thyroid and parathyroid tumors, pheochromocytoma MEN 2A (aut dom ret mutation)
Thyroid tumors, pheochromocytoma, ganglioneuromatosis MEN 2B (aut dom ret mutation)
Unilateral facial dropping involving forehead Bells palsy (LMN CN VII palsy)
Urethritis, conjunctivitis, arthritis in a male Reactive arthritis associated with HLA-B27
Vascular birthmark (port wine stain) Hemangioma (benign, but associated with sturge-weber syndrome)
Vomiting blood following esophagogastric lacerations Mallory-Weiss syndrome
"Waxy" casts with very low urine flow Chronic end stage-renal disease
WBC casts in urine Acute pyelonephritis
Weight loss, diarrhea, arthritis, fever, adenopathy Whipple's disease (Tropheryma whippelii)
"Worst HA of my life" Subarachnoid hemorrhage
Created by: 092309
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