Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.

BACKGROUND: Proteus syndrome is an overgrowth disorder caused by a mosaic activating AKT1 variant. Hair abnormalities in Proteus syndrome have rarely been reported, and frequencies of such findings have not been elucidated.

OBJECTIVE: To define the types and frequencies of hair findings in individuals with Proteus syndrome.

METHODS: A cross-sectional study was conducted on individuals with clinical features of Proteus syndrome and a confirmed pathogenic variant in AKT1 evaluated between November 1996 and June 2019 at the NIH Clinical Center. Medical records were reviewed for patterning, density, and color of hair on the body and scalp.

RESULTS: Of 45 individuals evaluated, 29 (64%) had asymmetric hypertrichosis on the body. This included unilateral blaschkoid hypertrichotic patches overlying normal skin or epidermal nevi (n=16, 36%), unilateral non-blaschkoid hypertrichotic patches (n=11, 24%), and unilateral limb hypertrichosis (n=10, 22%). Diffuse, scattered, or patchy changes in scalp hair density or color were present in 11 (24%) individuals.

LIMITATIONS: The retrospective, observational design and limited longitudinal follow-up.

CONCLUSIONS: Asymmetric variations in hair distribution, thickness, length, and color contribute to the overall mosaic appearance of the skin in Proteus syndrome, an observation that provides novel insights into the role of PI3K-AKT signaling in skin appendage development.