Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.
Adolescent
Adult
Child
Child, Preschool
Cross-Sectional Studies
DNA Mutational Analysis
Female
Hair Follicle
/ growth & development
Humans
Hypertrichosis
/ epidemiology
Male
Mosaicism
Mutation
Phosphatidylinositol 3-Kinases
/ metabolism
Prevalence
Proteus Syndrome
/ complications
Proto-Oncogene Proteins c-akt
/ genetics
Retrospective Studies
Signal Transduction
/ genetics
Young Adult
AKT
AKT1
Blaschko lines
Proteus syndrome
hair
hair follicles
hypertrichosis
mosaicism
Journal
Journal of the American Academy of Dermatology
ISSN: 1097-6787
Titre abrégé: J Am Acad Dermatol
Pays: United States
ID NLM: 7907132
Informations de publication
Date de publication:
Feb 2021
Feb 2021
Historique:
received:
15
08
2019
revised:
28
01
2020
accepted:
31
01
2020
pubmed:
10
2
2020
medline:
30
7
2021
entrez:
10
2
2020
Statut:
ppublish
Résumé
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.
Sections du résumé
BACKGROUND
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
OBJECTIVE
To define the types and frequencies of hair findings in individuals with Proteus syndrome.
METHODS
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
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
CONCLUSIONS
The retrospective, observational design, and limited longitudinal follow-up.
CONCLUSIONS
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.
Identifiants
pubmed: 32035943
pii: S0190-9622(20)30167-5
doi: 10.1016/j.jaad.2020.01.078
pmc: PMC7415737
mid: NIHMS1568923
pii:
doi:
Substances chimiques
AKT1 protein, human
EC 2.7.11.1
Proto-Oncogene Proteins c-akt
EC 2.7.11.1
Types de publication
Journal Article
Observational Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
415-424Subventions
Organisme : Intramural NIH HHS
ID : ZIA HG200388
Pays : United States
Informations de copyright
Published by Elsevier Inc.
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