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. 1995 Apr;32(4):316–319. doi: 10.1136/jmg.32.4.316

Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.

E Legius 1, R Wu 1, M Eyssen 1, P Marynen 1, J P Fryns 1, J J Cassiman 1
PMCID: PMC1050386  PMID: 7643367

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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