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Eur J Dermatol. 2005 Sep-Oct;15(5):341-3.

Klippel-Trenaunay syndrome in a monozygotic male twin: supportive evidence for the concept of paradominant inheritance.

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  • 1Winkelriedstrasse 10, Dermatology FMH, CH-5430 Wettingen Switzerland. thomas.hofer@active.ch

Abstract

Klippel-Trenaunay-syndrome (KTS) (OMIM 149000) is a congenital slow-flow capillary lymphaticovenous malformation often affecting the lower extremities and accompanied by bone and soft tissue hypertrophy. The cutaneous lesions are always surrounded by regions of unaffected skin in a mosaic pattern. Usually, KTS occurs sporadically but rare reports of familial segregation exist, contributing to the ongoing debate on the issue of heredity in this disease. Herein, we report on identical monozygotic male twins discordant for KTS. This observation strongly supports the model of paradominant inheritance that was recently proposed for this and similar disorders.

PMID:
16172041
[PubMed - indexed for MEDLINE]
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