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Hypertrichotic patches as a mosaic manifestation of Proteus syndrome - 11/01/21

Doi : 10.1016/j.jaad.2020.01.078 
Deeti J. Pithadia, BS a, John W. Roman, MD a, Julie C. Sapp, ScM b, Leslie G. Biesecker, MD b, Thomas N. Darling, MD, PhD a,
a Department of Dermatology, Uniformed Services University, Bethesda, Maryland 
b National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 

Correspondence to: Thomas N. Darling, MD, PhD, Department of Dermatology, Uniformed Services University, 4301 Jones Bridge Rd, Bethesda, MD 20814.Department of DermatologyUniformed Services University4301 Jones Bridge RdBethesdaMD20814



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.


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


A 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.


Of 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%).


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


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 phosphoinositide 3-kinase (PI3K)-protein kinase B (AKT) signaling in skin appendage development.

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Key words : AKT, AKT1, Blaschko lines, hair, hair follicles, hypertrichosis, mosaicism, Proteus syndrome

Abbreviations used : AKT, PI3K


 Funding sources: This study was funded by the Intramural Research Program of the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH), grant HG-200388-04. This research was also made possible by the NIH Medical Research Scholars Program, a public-private partnership supported jointly by the NIH and generous contributions to the Foundation for the NIH from the Doris Duke Charitable Foundation, the American Association for Dental Research, the Colgate-Palmolive Company, Genentech, and other private donors. For a complete list, visit the Foundation website at www.fnih.org.
 Conflicts of interest: None disclosed.
 Portions of this work were presented at the 2019 Annual Southeastern Pediatric Research Conference, Atlanta, Georgia, June 10, 2019, and at the 44th Annual Meeting of the Society for Pediatric Dermatology, Austin, Texas, July 11-14, 2019.
 Disclaimer: The opinions and assertions expressed herein are those of the authors and do not reflect the official policy or position of the Uniformed Services University, the Department of Defense, or the National Institutes of Health.
 IRB approval status: Each study participant (or their parent, if a minor) provided written informed consent under the protocol 94-HG-0132, which was approved by the National Human Genome Research Institute (NHGRI) Institutional Review Board at the National Institutes of Health.
 Reprints not available from the authors.

© 2020  Publié par Elsevier Masson SAS.
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Vol 84 - N° 2

P. 415-424 - février 2021 Retour au numéro
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