Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.
J Am Acad Dermatol
; 84(2): 415-424, 2021 Feb.
Article
em En
| MEDLINE
| ID: mdl-32035943
ABSTRACT
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 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.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 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.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 phosphoinositide 3-kinase (PI3K)-protein kinase B (AKT) signaling in skin appendage development.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Proteu
/
Proteínas Proto-Oncogênicas c-akt
/
Hipertricose
/
Mosaicismo
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Prevalence_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Am Acad Dermatol
Ano de publicação:
2021
Tipo de documento:
Article