Café au lait spots: When and how to pursue their genetic origins.
Adaptor Proteins, Signal Transducing
/ genetics
Cafe-au-Lait Spots
/ congenital
Child
Child, Preschool
Diagnosis, Differential
Female
Gene Deletion
Genetic Association Studies
Germ-Line Mutation
Humans
Infant
Infant, Newborn
Male
Neurofibromatosis 1
/ diagnosis
Neurofibromin 1
/ genetics
Skin
/ pathology
Skin Diseases, Genetic
/ diagnosis
Syndrome
Journal
Clinics in dermatology
ISSN: 1879-1131
Titre abrégé: Clin Dermatol
Pays: United States
ID NLM: 8406412
Informations de publication
Date de publication:
Historique:
entrez:
25
9
2020
pubmed:
26
9
2020
medline:
21
10
2020
Statut:
ppublish
Résumé
Café au lait spots are common birthmarks seen sporadically and in association with several genetic syndromes. Dermatologists are often asked to evaluate these birthmarks both by other physicians and by parents. In some cases, it is challenging to know when and how to pursue further evaluation. Diagnostic challenges may come in the form of the appearance of the individual lesions, areas and patterns of cutaneous involvement, and associated features (or lack thereof). In this review, we aim to clarify when and how to evaluate the child with multiple or patterned café au lait spots and to explain some emerging concepts in our understanding of the genetics of these lesions.
Identifiants
pubmed: 32972601
pii: S0738-081X(20)30042-0
doi: 10.1016/j.clindermatol.2020.03.005
pii:
doi:
Substances chimiques
Adaptor Proteins, Signal Transducing
0
NF1 protein, human
0
Neurofibromin 1
0
SPRED1 protein, human
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
421-431Informations de copyright
Copyright © 2020 Elsevier Inc. All rights reserved.