title: Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.
abstract: Encephalocraniocutaneous lipomatosis (ECCL) is a congenital hamartomatous disorder characterised by unilateral skin lesions, lipomas, and ipsilateral ophthamological and cerebral malformations. The disorder is thought to represent a localised form of Proteus syndrome. In this report, a child is described with ECCL and a de novo nonsense mutation in exon 29 (S1745X) of the neurofibromatosis type 1 (NF1) gene. Although it is possible that both ECCL and NF1 occur coincidentally in this patient, we favour the hypothesis that in exceptional cases a mutation in the NF1 gene might give rise to severe congenital malformations such as ECCL. Possible pathogenetic mechanisms for these malformations are discussed.
authors.affiliation: Centre for Human Genetics, University of Leuven, Belgium.
authors.forename: E
authors.initials: E
authors.lastname: Legius
authors.forename: R
authors.initials: R
authors.lastname: Wu
authors.forename: M
authors.initials: M
authors.lastname: Eyssen
authors.forename: P
authors.initials: P
authors.lastname: Marynen
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: J J
authors.initials: JJ
authors.lastname: Cassiman
mesh_terms: D001483:Base Sequence; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D002478:Cells, Cultured; D002675:Child, Preschool; D003316:Corneal Diseases / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005347:Fibroblasts / Q000166:cytology; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D007223:Infant; D008068:Lipomatosis / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D012871:Skin Diseases / Q000235:genetics* / Q000473:pathology