Proteus syndrome: diagnosis in adulthood

1 July 1998

journal article
case report
Published by Oxford University Press (OUP) in British Journal of Dermatology

Vol. 139 (1) , 132-136
https://doi.org/10.1046/j.1365-2133.1998.02330.x

Abstract

We describe a 24-year-old woman with many of the classical features of the Proteus syndrome. In childhood she had undergone bilateral forefoot amputations because of massive bilateral cerebriform hypertrophy of the feet. Other features include abnormally large fingers on one hand, a lymphangioma circumscriptum, an epidermal naevus, prominent venous varicosities and scattered lipomas. The disorder occurs sporadically and is thought to be secondary to a postzygotic mutation that survives by mosaicism.

Keywords

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