Evolution of skin lesions in Proteus syndrome

Abstract

Proteus syndrome is a rare overgrowth disorder that is generally progressive, but the natural history of the skin lesions is not known. Our purpose was to document the evolution of 4 common skin lesions in 16 patients with Proteus syndrome. Most epidermal nevi and vascular malformations were reported to appear in the first month of life and had little tendency for expansion or development of additional lesions. Subcutaneous lipomas and cerebriform connective tissue nevi were commonly noted in the first year of life, but not in the first month. Most patients reported that subcutaneous lipomas and cerebriform connective tissue nevi progressively increased in size, and in most patients additional lesions developed at new locations. Of the 4 types of skin lesions, plantar cerebriform connective tissue nevi were most frequently cited as a source of symptoms. Skin lesions of Proteus syndrome may not appear until later infancy or early childhood, making it difficult to diagnose in young children.