Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.
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.
Legius
E
E
Centre for Human Genetics, University of Leuven, Belgium.
Wu
R
R
Eyssen
M
M
Marynen
P
P
Fryns
J P
JP
Cassiman
J J
JJ
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