Observational studyJournal of the American Academy of Dermatology2021
Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.
Observational study in Journal of the American Academy of Dermatology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- Multidisciplinary management promoting wound healing in a patient with Proteus syndrome: a case report.Frontiers in pediatrics · 2026Article
- Dermatologic findings in individuals with genetically confirmed Proteus syndrome.Pediatric dermatology · 2021Article
- Acne following Blaschko's lines in Proteus syndrome.JAAD case reports · 2020Article
- Case for diagnosis. Vascular malformations, hemihypertrophy and macrodactyly: Proteus syndrome.Anais brasileiros de dermatologiaArticle
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundProteus 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.
objectiveTo define the types and frequencies of hair findings in individuals with Proteus syndrome.
methodsA cross-sectional study was conducted of individuals with clinical features of Proteus syndrome and a confirmed pathogenic variant in AKT1 evaluated between November 1996 and June 2019 at the National Institutes of Health Clinical Center. Medical records were reviewed for patterning, density, and color of hair on the body and scalp.
resultsOf 45 individuals evaluated, 29 (64%) had asymmetric hypertrichosis on the body. This included unilateral blaschkoid hypertrichotic patches overlying normal skin or epidermal nevi in 16 (36%), unilateral nonblaschkoid hypertrichotic patches in 11 (24%), and unilateral limb hypertrichosis in 10 (22%). Diffuse, scattered, or patchy changes in scalp hair density or color were present in 11 individuals (24%). LIMITATIONS: The retrospective, observational design, and limited longitudinal follow-up.
conclusionsAsymmetric 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 phosphoinositide 3-kinase (PI3K)-protein kinase B (AKT) signaling in skin appendage development.
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