Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.
Open Access
- 1 April 1995
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (4) , 316-319
- https://doi.org/10.1136/jmg.32.4.316
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.Keywords
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