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概要

Piebaldism Associated with Neurofibromatosis Type I: A Case Report

Ayman Elgendy, Eslam Alshawadfy, Eman Ali and Abdelaziz Altaweel1

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. We report a 15-year-old girl with both piebaldism and neurofibromatosis type 1 (NF1). She presented with a congenital depigmented patch of the forehead, as well as acquired white forelock, depigmentation of the medial eyebrows, and depigmented patches of the legs. In addition, some café au lait macules were observed at birth on the trunk and neck. To our knowledge, the association of piebaldism and NF1 has been described previously in at least 6 case reports. Awareness of this rare association is relevant to ensure early diagnosis and adequate follow-up for NF1.