Piebaldism Associated with Café-au-lait Macules and Intertriginous Freckling: A Case Report and Review of the Literature
Annals of Dermatology
;
: 567-570, 2019.
Artigo
em Inglês
| WPRIM
| ID: wpr-762370
ABSTRACT
We present 9-year-old fraternal twins from a family with piebaldism, having congenital depigmented macules and meeting the diagnostic criteria for neurofibromatosis type 1 (NF1) due to the multiple café-au-lait macules (CALMs) and intertriginous freckling at the same time. It's still a debatable issue that CALMs and intertriginous freckling may be seen in the clinical spectrum of piebaldism or these patients should be regarded as coexistence of piebaldism and NF1. However, based on recent literature and our patients' findings, we suggest that this rare phenotypic variant of piebaldism may not need the careful clinical follow-up and molecular testing for NF1. Besides, it may be suitable that these individuals with piebaldism showing NF1-like clinical phenotypes should be further tested for KIT and SPRED1 gene mutations.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Dermatopatias Genéticas
/
Gêmeos Dizigóticos
/
Seguimentos
/
Piebaldismo
/
Neurofibromatose 1
/
Neurofibromatoses
/
Manchas Café com Leite
/
Melanose
Tipo de estudo:
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
Limite:
Criança
/
Humanos
Idioma:
Inglês
Revista:
Annals of Dermatology
Ano de publicação:
2019
Tipo de documento:
Artigo
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