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Abdominal pain, ascites, hepatomegaly. CHF symptoms with no JVD, increased d dimer marker
Budd-Chiari syndrome (posthepatic venous thrombosis),
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Achilles tendon xanthoma
Familial hypercholesterolemia
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Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrom (meningococcemia)
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Arachnodactyly, lens dislocation, aortic dissection, hyperflexible jonts
Margan's syndrome (fibrillin defect)
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athlete with polycythemia
erythropoeitin injeciton
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back pain, fever, night sweats, weight loss
Pott's disease (vertebral TB)
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b/l hilar adenopathy, uveitis
sarcoidosis (non-caseating granuloma)
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blue sclera
OI (collagen defect Type 1)
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bluish line on gingiva
Burton's line (lead poisoning)
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bone pain, bone enlargement, arthritis, increased hat size, fractures
Paget's disease of bone, increased osteoblastic and osteoclastic activity, increased alkaline phosphatase
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bounding pulses, diastolic heart murmur, head bobbing
aortic regurgitation
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cafe-au-lait spots, Lisch nodules (iris hamartoma)
- NF type 1 (+pheochromocytoma, optic glioma)
- NF type 2 (+b/l acoustic neuroma)
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Cafe-au-late spots, polyostotic fibrous dysplasia, precocious puberty
McCune-Albright syndrome (mosaic G-protein signaling mutation)
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calf pseudohypertrophy
muscular dystrophy (MC Duchenne's, also Becker's)
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"cherry red spot" on macula
Tay Sach's (gnaglioside accumulation), or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
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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)
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child uses arms to stand up from squat
Gower's sign (Duchenne muscular dystrophy: X-linked recessive deleted dystrophin gene)
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child with fever develops red rash on face that spreads to body
"slapped cheeks" (erythema infectiosum/5th disease: parvovirus B19)
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chorea, dementia, caudate degeneration
Huntington's disease (autosomal-dominant CAG repeat expansion)
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chronic exercise intolerance with myalgia, fatigue, painful cramps
McArdle's disease (muscle phosphorylase deficiency)
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cold intolerance
hypothyroidism
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conjugate lateral gaze palsy, horizontal nystagmus
internuclear opthalmoplegia (damage to MLF; b/l in MS, unilateral in strok)
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continuous machinery heart murmur
PDA (close with indomethacin, open with misoprostol, a prostaglandin)
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cutaneous/dermal edema due to connective tissue deposition
myxema (hypothyroidism, Grave's disease - pre-tibial)
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dark purple skin/mouth nodules
Kaposi's sarcoma (usually AIDS patients, gay men, associate with HHV-8)
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deep, labored breathing/hyperventilation
Kussmaul breathing (DKA)
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dermatitis, dementia, diarrhea, death
Pellagra - niacin (Vit B3) deficiency
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dilated cardiomyopathy, edema, polyneuropathy
wet beriberi - thiamine (Vit B3) deficiency
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dor or cat bite resulting in infection
Pasturella multocida - cellulitis at inoculation site
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dry eyes, dry mouth, arthritis
Sjorgen's syndrome - autoimmune destruction of exocrine glands, older females, increased cavities
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dysphagia (esophageal webs), glossitis, iron deficinecy anemia
Plummer'Vinson syndrome, may progress to esophageal SCC
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elastic skin, hypermobility of joints
Ehler's Danlos syndrome - collagen defect, usually Type III
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enlarged, hard left supraclavicular node
Virchow's node - abdominal metastasis, gastric CA
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erythroderma, lymphadenopathy, HSM, atypical T cells
Sezary syndrome - cutaneous T-cell lymphoma or mycosis fungoides
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facial muscle spasm upon tapping
Chvostek sign - hypocalcemia
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fat, female, forty, fertile
cholelithiasis leading to acute cholecystitis
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fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarish-Herxheimer reaction - rapid lysis of spirochetes results in toxin release
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fever, cough, conjunctivitis, coryza, diffuse rash from head to body
Measles - Morbillivirus - 3 Cs of measles
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fever, night sweats, weight loss
TB, B symptoms of lymphoma
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fibrous plaques on soft tissue of penis
Peyroine's disease - connective tissue disorder
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gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome - HGPRT deficiency, X-linked recessive
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green-yellow rings around peripheral cornea
kayser-fleischer rings - copper accumulation from Wilson's disease
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hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands
Peutz-Jegher's syndrome - genetic benign polyposis can cause bowel obstruction, increase cancer rish
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HSM, osteoporosis, neurologic symptoms
Gaucher's disease - glucocerebrosidase deficiency, tissue paper cytoplasm
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hereditary nephritis, sensorineural hearing loss, cataracts
Alport's syndrom - type IV collagen mutation, can't see, can't pee, can't hear
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hypercoagulability leading to migrating DVTs and vasculitis - thrombophlebitis
Trousseau's sign - adenocarcinoma of pancreas or lungs
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hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome - b/l amygdala syndrome
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HTN, hypokalemia, metabolic alkalosis
Conn's syndrome - primary hyperaldosteronism
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hypoxemia, polycythemia, hypercapnia
Blue bloater = chronic bronchitis, hyperplasia of mucus cells, increased Reed index d/t thick mucus layer
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indurated, ulcerated genital lesion
- Nonpainful chancre - primary syphilis from Treponema pallidum
- or
- Painful with exudate - chancroid from Haemophilus ducreyi
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infant with failure to thrive, HSM, neurogeneration, cherry red spot on macula
Niemann-Pick disease - genetic sphingomyelinas deficiency
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infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease - debranching enzyme deficiency or von Gerke's
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infant with micrceophaly, rocker-bottom feet, clenched hands, and structural heart defect
Edward's syndrome - trisomy 18
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jaundice, RUQ pain, fever
Charcot's triad of ascending cholangitis
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keratin pearls on skin biopsy
SCC
-
large rash with bull's eye appearance
erythema chronicum migran's from Ixodes tick bite - Lyme disease of Borrelia
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lucid interval after traumatic brain injury
epithelial hematoma from m iddle meningeal artery rupture
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male child, recurrent infections, no mature B cells
Bruton's disease - X-linked agammaglobinemia
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mucosal bleeding and prolonged bleeding time
Glanzmann's thrombasthemia - defect in platelet aggregation due to lack of GpIIb/IIIa
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multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner's syndrome subtype of FAP, associate with APC gene
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necrotizing vasculitis in lungs and necrotizing glomerulonepritis
Wegener's c-anca postive and Goodpastu're syndrome's anti-basement membrane antibodies
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neonate with arm paralysis following difficult birth, clavicle fracture
Erb-Duchenne palsy from superior trunk (C5-C6) brachial plexus injury, waiter's tip
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no lactation postpartum, absent menstruation, cold intolerance, hypotensive
Sheehan's syndrome from pituatary infarction
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nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
MS
-
oscillating slow/fast breathing
Cheyne-Stokes respirations from central apnea in CHF or increased ICP
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painful blue fingers/toes, hemolytic anemia
cold agglutinin disese - autoimmune helomytic anemia caused by Mycoplasma pneumonia or infectious mononucleosis by EBV, IgM antibodies
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painful, pale, cold fingers/toes
Raynoud's syndrome - vasospasm in extremities
-
painful, raised red lesions on palms and soles
Osler's nodes from infective endocarditis
-
painless erythematous lesions on palms and soles
Janeway lesions of infective endocarditis
-
pain less jaundice
cancer of the pancreatic head obstructing bile duct
-
palpable purpura, joint pain, abdominal pain in child, hematuria
Henoch-Schonlein purpura - IgA vasculitis affecting the skin and kidneys
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pancreatic, pituitary, parathyroid tumors
Wermer's syndrome of MEN I
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