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[Piebaldisme: a rare genodermatosis].

Fatima Zahra Debbarh1, Fatima Zahra Mernissi1

  • 1Service de Dermatologie, CHU Hassan II, Fès, Maroc.

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|October 6, 2017
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Summary
This summary is machine-generated.

Piebaldism, a rare genetic skin disorder, results from absent melanocytes, causing distinct white patches and sometimes café-au-lait spots from birth. This case highlights its clinical presentation and diagnostic considerations.

Keywords:
Piebaldismachromic maculesc-kitgénodermatosis

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Area of Science:

  • Dermatology
  • Genetics

Background:

  • Piebaldism is a rare autosomal dominant genodermatosis characterized by the congenital absence of melanocytes.
  • It affects less than 1/20000 newborns, often presenting with symmetrical achromic macules and poliosis.

Observation:

  • A 5-year-old girl presented with congenital achromic lesions and poliosis, alongside café-au-lait spots.
  • Clinical examination revealed confluent achromic macules and poliosis, with no enhancement under Wood lamp.

Findings:

  • The diagnosis of piebaldism was confirmed, characterized by congenital melanocyte absence due to c-kit gene mutations.
  • The patient exhibited isolated café-au-lait spots, a less common but recognized presentation.

Implications:

  • This case underscores the importance of recognizing piebaldism's varied clinical spectrum, including isolated pigmentary anomalies.
  • Differential diagnosis is crucial, considering conditions like vitiligo, albinism, and Waardenburg syndrome.