Piebaldism Associated with Café-au-lait Macules and Intertriginous Freckling: A Case Report and Review of the Literature
Annals of Dermatology
;
: 567-570, 2019.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Enfermedades Cutáneas Genéticas
/
Gemelos Dicigóticos
/
Estudios de Seguimiento
/
Piebaldismo
/
Neurofibromatosis 1
/
Neurofibromatosis
/
Manchas Café con Leche
/
Melanosis
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
/
Factores de riesgo
Límite:
Niño
/
Humanos
Idioma:
Inglés
Revista:
Annals of Dermatology
Año:
2019
Tipo del documento:
Artículo
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