Abstract

Looking through the dermoscope in a case of piebaldism

Highlights

  • Piebaldism is an uncommon autosomal dominant disorder characterized by the congenital absence of melanocytes in localised areas of the skin and hair due to c-kit gene mutation, which affects the differentiation and migration of melanoblasts from the neural crest during the embryonic life

  • A 6 year old girl, first child born of non consanguineous marriage presented with asymptomatic white patches on the upper chest which remained stable since their appearance (Fig. 1)

  • Piebaldism is a rare autosomal dominant disorder characterized by the congenital absence of melanocytes in affected areas of the skin and hair due to mutations of the c-kit gene, located on Chromosome 4q12, which affects the differentiation and migration of melanoblasts from the neural crest during the embryonic life [2]

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Summary

Introduction

Piebaldism is an uncommon autosomal dominant disorder characterized by the congenital absence of melanocytes in localised areas of the skin and hair due to c-kit gene mutation, which affects the differentiation and migration of melanoblasts from the neural crest during the embryonic life. This condition is clinically characterised by the presence of localized stable hypo to depigmentation of the skin and hair, and by a characteristic distribution that involves the anterior trunk, extremities, the central portion of eyebrows, and the midfrontal portion of scalp with resultant white forelock, which is the most common and persisting feature [1]. A 6 year old girl, first child born of non consanguineous marriage presented with asymptomatic white patches on the upper chest which remained stable since their appearance (Fig. 1).

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