Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 22-03-2016
Symbol ECCL
Location 8p11.22
Name encephalocraniocutaneous lipomatosis
Corresponding gene FGFR1
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
  • Genetic determination not applicable
    Function/system disorder dermatology
    mental retardation
    Type disease
  • mosaic, activating substitutions at two residues (p.Asn546Lys and p.Lys656Glu) in the cytoplasmic tyrosine kinase domain of FGFR1 cause ECCL (PMID: 26942290))