Phacomatosis spilosebacea: A new name for a distinctive binary genodermatosis.
RASopathy
basal cell carcinoma
cancer
genodermatosis
nevus sebaceus
nevus spilus
papular nevus spilus
phacomatosis pigmentokeratotica
phacomatosis spilosebacea
rickets
sebaceous nevus
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:
10 2023
10 2023
Historique:
received:
17
07
2020
revised:
16
12
2020
accepted:
28
12
2020
medline:
20
9
2023
pubmed:
16
2
2021
entrez:
15
2
2021
Statut:
ppublish
Résumé
Phacomatosis pigmentokeratotica (PPK) is defined by the association of papular nevus spilus arranged in a flag-like pattern and sebaceous nevus following Blaschko's lines. A systematic search of the worldwide literature retrieved 95 well-established PPK cases. An additional 30 cases were excluded for a number of reasons. Based on this study, we propose to rename PPK phacomatosis spilosebacea (PSS). Mosaic mutations of the HRAS gene are the only proven cause of PSS. The extracutaneous abnormalities of PSS result from various degrees of intermingling of Schimmelpenning syndrome and papular nevus spilus syndrome. PSS seems to be a condition at particularly high risk of developing basal cell carcinoma, urogenital malignancies, and vitamin D-resistant hypophosphatemic rickets. Extracutaneous abnormalities were detected in approximately 75% of PSS cases.
Identifiants
pubmed: 33583608
pii: S0190-9622(21)00109-2
doi: 10.1016/j.jaad.2020.12.082
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
764-773Informations de copyright
Copyright © 2021 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflicts of interest None disclosed.