Last update 23 Jan 2025

Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

Basic Info

Synonyms
CLOVE SYNDROME, CLOVE Syndrome, CLOVE syndrome
+ [19]
Introduction
A disorder caused by mutation(s) in the PIK3CA gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform. It is characterized by mixed capillary, lymphatic, venous, and arteriovenous vascular malformations, segmental progressive overgrowth of subcutaneous, muscular, and visceral fibroadipose tissue with skeletal overgrowth.

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