| Main clinical features
|
neurocutaneous disorder characterized by patchy, asymmetric malformations, cutaneous, ocular, and central nervous system (CNS) abnormalities, but normal intellect is seen in a third of affected individuals
most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp seen in 80p100 of affected individuals (PMID: 26942290))
frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko
skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas |