SEGMENTAL OR MOSAIC NEUROFIBROMATOSIS TYPE 1: A REPORT OF 2 PATIENTS

  • Paulo Morais Assistente Hospitalar de Dermatologia e Venereologia/Consultant of Dermatology, Serviço de Dermatologia e Venereologia, Centro Hospitalar Tondela-Viseu EPE, Viseu, Portugal
  • Fortunato Vieira Assistente Hospitalar de Anatomia Patológica/Consultant of Pathology, Histocit - Laboratório de Anatomia Patológica, Trofa, Portugal
Keywords: Genes, Neurofibromatosis 1, Mosaicism

Abstract

Segmental neurofibromatosis type 1 (NF1) is characterized by typical features of NF1 limited to one or more body segments, and usually located unilaterally. It is caused by a somatic (rarely gonadal) postzygotic mutation in the NF1 gene, explaining why it should be regarded as a genetic mosaicism instead of a distinct entity from neurofibromatosis. We herein report two patients with segmental NF1 and give an updated overview of the disease.

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How to Cite
Morais, P., & Vieira, F. (1). SEGMENTAL OR MOSAIC NEUROFIBROMATOSIS TYPE 1: A REPORT OF 2 PATIENTS. Journal of the Portuguese Society of Dermatology and Venereology, 72(1), 125-129. https://doi.org/10.29021/spdv.72.1.234
Section
Case Reports