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W
Waardenburg Syndrome
Etiology: mutations in genes involving the development of melanocytes + neural crest cells
Inheritance: AD
Appearance: patchy depigmentation of skin, hair
Ass. conditions: deafness, heterochromia iridis
Tx: no cure, sun protection, audiology exam
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Warfarin-induced skin necrosis
Etiology: warfarin decreases protein C = poor inactivation of factor Va and VIIIa = hyper coagulable state
Timing: first 2-5 days of starting warfarin
Appearance: purport that becomes bluish-black with a red rim over a few days; blood blisters and full thickness skin necrosis follows
Locations: extremities, breasts, trunk, penis
Ass. conditions: protein C deficiency
At risk: 50-70 yo, obese pts, perimenopausal women
Tx: stop warfarin, Vitamin K reverses warfarin quicker, may require surgery or skin grafting
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Waterhouse-Friderichsen Syndrome (meningococcal disease)
Etiology: Meningococcus which leads to adrenal hemorrhage, fulminant sepsis, and DIC
Appearance: petechial or purpura that do not blanch
Ass. sx: neck stiffness, HA, N/V, fevers, chills, irritability, seizure
Location: begins on trunk or legs
At risk: less than 4 yo, complement deficiencies, asplenic patients
Tx: Penicillin, 3rd gen cephalosporin, IVF, NE, platelets
Prog: if not treated quickly, pt may rapidly die
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