ஜர்னல் ஆஃப் கிளினிக்கல் & எக்ஸ்பெரிமென்டல் டெர்மட்டாலஜி ரிசர்ச்
திறந்த அணுகல்

சுருக்கம்

Piebaldism and Neurofibromatosis type -1: Family Report Familial Case of Piebaldism with Regression of the Depigmentation over the Trunk

Digafe Alembo

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. The white hair and patches of such patients are completely formed at birth and do not usually progress or regress thereafter.

Here I report a family (one year and seven months old daughter, nine year old boy and their father) with piebaldism associated with clinical criteria for Neurofibromatosis type -1. There are rare reports of piebaldism associated with neurofibromatosis -1. I also report a case of piebaldism with regression of the depigmentation over the trunk. Regression of the white foreloke was rarely reported but regression over the depigmentation over the trunk has not been reported.