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Exp Dermatol. 2016 Jan;25(1):17-9. doi: 10.1111/exd.12826. Epub 2015 Oct 13.

Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).

Author information

1
Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.
2
Molecular Medicine Division, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
3
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Abstract

Klippel-Trenaunay syndrome (KTS), originally described as a triad of cutaneous capillary malformation, bone and soft-tissue hypertrophy, as well as venous and lymphatic malformations, has been considered by dermatologists as a distinct diagnostic entity. However, cases with KTS have also been reported to have neurological disorders, developmental delay and digital abnormalities, indicating multisystem involvement. Recently, a number of overgrowth syndromes, with overlapping phenotypic features with KTS, have been identified; these include MCAP and CLOVES syndromes as well as fibroadipose hyperplasia. These conditions harbour mutations in the PIK3CA gene, and they have been included in the PIK3CA-related overgrowth spectrum (PROS). Based on recent demonstrations of PIK3CA mutations also in KTS, it appears that, rather than being a distinct diagnostic entity, KTS belongs to PROS. These observations have potential diagnostic and therapeutic implications for KTS.

KEYWORDS:

CLOVES syndrome; Klippel-Trenaunay syndrome; PIK3CA-related overgrowth spectrum; fibroadipose hyperplasia

PMID:
26268729
DOI:
10.1111/exd.12826
[Indexed for MEDLINE]

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