Hereditary aplasia cutis congenita and associated defects. Three instances in one family and a survey of reported cases.
Hereditary aplasia cutis congenita (ACC) is a rare, dominantly inherited syndrome of scalp aplasia associated with defects of the underlying skull and absent distal phalanges of the feet. The scalp lesions are generally benign, but the increased risk of bleeding or meningitis may require skin grafting.
D000293:Adolescent; D000328:Adult; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012535:Scalp / Q000002:abnormalities*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities