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Abdominal pain, ascites, hepatomegaly, (also high D dimer, CHF without JVD)
Budd-Chiari syndrome
Achilles tendon xanthoma
Familial hypercholesterolemia
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan's (fibrillin defect)
Athlete with polycythemia
Erythropoietin injection
Back pain, fever, night sweats, weight loss
Pott's (TB to the vertebrae)
Bilateral hilar adenopathy, uveitis
Sarcoid
Blue sclera
Osteogenesis imperfecta
Bluish line on gingiva
Burton's line - lead poisoning
Bone pain, bone enlargement, arthritis, (also increased hat size, fracture, increased alk phos)
Paget's
Bounding pulses, diastolic hear murmur, head bobbing
Aortic regurg
Café-au-lait spots, Lisch nodules
NF (1 = optic glimoas and pheo, 2 = acoustic Schwannomas)
Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty
McCune-Albright syndome (G protein problem)
Calf pseudohypertrophy
Duchenne's muscular dystrophy
Cherry-red spot on macula
Tay-Sachs, Niemann-Pick, central retinal artery occlusion
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler's (autoimmune post-MI)
Child uses arms to stand up from squat
Gower's sign (Duchenne's)
Child with fever develops red rash on face that spreads to body
Slapped cheek - B19
Chorea, dementia, caudate degeneration
Huntington's
Chronic exercise intolerance with myalgia, fatigue, painful cramps
McArdle's (muscle phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (MS or stroke)
Continuous machinery heart murmur
PDA
Cutaneous/dermal edema due to CT expansion
Myxedema
Dark purple skin / mouth nodules
Kaposi's sarcoma
Deep, labored breathing / hyperventilation
Kussmaul breathing, DKA
Dermatitis, dementia, diarrhea
Pellagra (B3 / niacin deficiency)
Dilated cardiomyopathy, edema, polyneuropathy
Wet beriberi (B1 / thiamine deficiency)
Dog or cat bite resulting in infection
Pasteurella multocida (local cellulitis)
Dry eyes, dry mouth, arthritis
Sjogren's syndrome
Dysphagia (esophageal webs), glossitis (smooth tongue), iron deficiency anemia
Plummer-Vinson syndrome
Elastic skin, hypermobility of joints
Ehler-Danlos (type III collagen)
Enlarged. hard left supraclavicular node
VIrchow's node (abdominal met)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T cell lymphoma)
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
Fat, female, fertile, forty
Gallstones
Fever, chills, headache, myalgia following antibiotic treatment for syphillis
Jarisch-Herxheimer reaction (lysis of spirochetes results in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash, Koplick spots
Measles
Fever, night sweats, weight loss
B symptoms or TB
Fibrous plaques in soft tissue of penis
Peyronie's disease
Gout, MR, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Green-yellow rings around peripheral iris
Kayser-Fleischer rings (copper accumulation from Wilson's disease)
Hamartomatous GI polyps, hyperpigmentation of mouth, feet and hands
Peutz-Jeghers syndrome
Hepatosplenomegaly, osteoporosis, neurologic symptoms, crinkled cytoplasm
Gaucher's disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport's syndrome (type IV collagen)
Hypercoagulability leading to thrombophlebitis
Trousseau's sign (adenocarcinoma of pancreas or lung)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala)
HTN, hypoK, metabolic alkalosis
Conn's (1* hyperaldosterone)
Hypoxemia, polycythemia, hypercapnia
Blue bloater (chronic bronchitis)
Indurated, ulcerated genital lesion
Nonpainful = syphillis. Painful with exudate = chancroid
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease (debranching enzyme deficiency, no glycogenolysis) or Von Gierke's
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edward's syndrome (Trisomy 18)
Jaundice, RUQ pain, fever
Charcot's triad (ascending cholangitis)
Keratin pearls
Squamous cell carcinoma
Large rash with bull's eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme)
Lucid interval after TBI
Epidural hematoma (middle meningeal artery)
Male child, recurrent infections, no mature B cells
Bruton's disease (X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
Multiple colon polyps, osteomas / soft tissue tumors, impacted / supernumary teeth
Gardner's syndrome
Necrotizing vasculitis (lungs) and necrotizing GN
Wegner's (c-ANCA) and Goodpasture's (anti-GBM). Wegner's can also have upper airway involvement
Neonate with arm paralysis following difficult birth. Possible clavicle fx, probably large for gestational age
Erb-Duchenne palsy
No lactation postpartum, absent menstruation, cold intolerance
Sheehan's syndrome
Nystagmus, intention tremor, scanning speech, also bilateral internuclear ophthalmoplegia
MS (Charcot's)
Oscillating slow / fast breathing
Cheyne-Stokes (central apnea from CHF or increased ICP)
Painful blue fingers / toes, hemolytic anemia
Cold agglutinin disease (autoimmune from Mp or mono, from IgM)
Painful, pale, cold fingers / toes
Raynaud's syndrome (vasospasm)
Painful, raised red lesions on palms and soles
Osler's node (infective endocarditis)
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis)
Painless jaundice
Cancer at head of pancreas obstructing bile duct
Palpable purpura, joint pain, abdominal pain in a child
Henoch-Schonlein purpura (IgA vasculitis)
Pancreatic, pituitary, parathyroid tumors
MEN 1 (Wermer's)
Pink complexion, dypnea, hyperventilation
Pink puffer (emphysema)
Polyuria, acidosis, growth failure, electrolyte imbalances
Fanconi's syndrome (proximal tubular reabsorption defect)
Ptosis, miosis, anhidrosis
Horner's syndrome (usually with Pancoast tumor in apex of lung)
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
Rapidly progressive leg weakness that ascend, following GI infection
Guillain-Barre syndrome
Rash on palms and soles
2* syphilis, Rocky Mountain spotted fever, coxsackie A
Recurrent colds, unusual eczema, high serum IgE
Job's syndrome
Red "current jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
Red, itchy, swollen rash of nipple/areola
Paget's disease of the breast
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria (C' mediated damage, lack of CD55/59)
Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau diease
Resting tremor, rigidity, akinesia, postural instability
Parkinson's
Restrictive cardiomyopathy (juvenile = cardiomegaly), exercise intolerance
Pompe's disease (lysosomal glucosidase deficiency)
Retinal hemorrhages with pale centers
Roth's spots (bacterial endocarditis)
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconj hyper bilirubinemia)
Severe RLQ pain with rebound tenderness
McBurney's sign
Short stature, increased incidence of tumors / leukemia, aplastic anemia
Fanconi's anemia (esp AML)
Single palm crease
Simian crease (Down's)
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener's syndrome (dynein)
Skin hyperpigmentation
Addison's
Slow progressive muscle weakness in boys
Becker's muscular dystrophy
Small, irregular red spots on buccal mucosa with blue-white centers
Koplick spots (measles)
Smooth, flat, moist white lesions on genitals
Condylomata lata (2* syphilis)
Splinter hemorrhages in fingernails
Bacterial endocarditis
Strawberry tongue
Scarlet fever, Kawasaki disease, TSS
Rusty sputum
Strep pneumo
Current jelly stool
Intussesseption
Streak ovaries, congenital heart disease, horseshoe kidney
Turner syndrome (X0, short stature, webbed neck, lymphedema)