PWS: 3/1000 births

Sx:Skin lesions usually flat though may be rounded; seizures in Sturge-Weber

Si: Thrills and bruits, hemiparesis and/or other neurologic si's

Capillary ("strawberry") hemangiomas: 25-50% present at birth, rest appear within 2 mo; maximum growth by 6-12 mo; involution begins in 16% at 6 mo, 65% at 12 mo, gone in 98% by age 9 yr

Sturge-Weber and port wine stains gradually darken and thicken until middle age; no involution

Large hemangioma; CHF; thrombocytopenia (Kasabach-Merritt syndrome) due to platelet trapping; spinal cord mass lesion si's due to hemangioma there, often (20%) with overlying arteriovenous malformation in same dermatome (Nejm 1969;281:1440)

Glaucoma in 45% if both 1st and 2nd branches of 5th cranial (trigeminal) nerve involved in Sturge-Weber syndrome

Xray:

Skull in Sturge-Weber may show parallel lines of vessel ("tramline") calcification

MRI in Sturge-Weber to find leptomeningeal hemangiomas

Rx:

of capillary hemangiomas: treat symptoms (bleeding, pain, ulceration, or infection). Will usually involute; if life-threatening cmplc or severe deformity of adjacent structures, use intralesional or systemic steroids; pulsed dye laser; or if that fails, interferon-2a sc qd (Nejm 1992;326:1456)

of port wine stains: flashlamp pulsed tunable dye laser rx under age 5 up to early adulthood works in 95+% (Nejm 1998;338:102; 1989;320:416; Med Let 1997;39:10; 1991;33:104) but redarkening of the lesion occurs over 10+ yr (Nejm 2007;356:1235)