Café au lait spots: When and how to pursue their genetic origins. Clin Dermatol 2020;38(4):421-431
Date
09/26/2020Pubmed ID
32972601DOI
10.1016/j.clindermatol.2020.03.005Scopus ID
2-s2.0-85083733535 (requires institutional sign-in at Scopus site) 16 CitationsAbstract
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.
Author List
Lalor L, Davies OMT, Basel D, Siegel DHAuthors
Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of WisconsinLeah Lalor MD Associate Professor in the Dermatology department at Medical College of Wisconsin
MESH terms used to index this publication - Major topics in bold
Adaptor Proteins, Signal TransducingCafe-au-Lait Spots
Child
Child, Preschool
Diagnosis, Differential
Female
Gene Deletion
Genetic Association Studies
Germ-Line Mutation
Humans
Infant
Infant, Newborn
Male
Neurofibromatosis 1
Neurofibromin 1
Skin
Skin Diseases, Genetic
Syndrome
