Piebaldism and neurofibromatosis type 1: family report.
Piebaldism is a rare disorder present at birth and inherited as an autosomal dominant trait. It results from a mutation in the c-kit proto-oncogene and is associated with a defect in the migration and differentiation of melanoblasts from the neural crest. Clinical manifestations and phenotypic severity strongly correlates with the site of mutation within the KIT gene. Here we report a 3-year-old boy and his 33-year-old father with leukoderma and poliosis associated with clinical criteria for Neurofibromatosis type 1. Genetic study of both revealed a p.Gly610Asp mutation in the KIT gene. This familiar mutation has not yet been reported in the literature. There are rare reports of piebaldism in association with neurofibromatosis type I.
Duarte
Ana Filipa
AF
Department of Dermatology, Hospital de São João, EPE, Porto, Portugal. duarte.af.t30@gmail.com
Mota
Alberto
A
Baudrier
Teresa
T
Morais
Paulo
P
Santos
António
A
Cerqueira
Rita
R
Tavares
Purificação
P
Azevedo
Filomena
F
D000328:Adult; D019943:Amino Acid Substitution; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D016514:Genes, Neurofibromatosis 1; D018740:Genetic Heterogeneity; D006801:Humans; D007859:Learning Disabilities / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics*; D016116:Piebaldism / Q000235:genetics*; D017354:Point Mutation; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit