Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. Issue 4 (April 1995)

• Record Type: Journal Article
• Authors: Legius, E; Wu, R; Eyssen, M; Marynen, P; Fryns, J P; Cassiman, J J
• Is Part Of: Journal of medical genetics. Volume 32:Issue 4(1995)
• Page Start: 316
• Page End: 319
• Publication Date: 1995-04
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.32.4.316
• Languages: English
• ISSNs: 1468-6244

Abstract

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.