TY - JOUR AU - Paulo Morais AU - Fortunato Vieira PY - 2014/07/17 Y2 - 2024/03/28 TI - SEGMENTAL OR MOSAIC NEUROFIBROMATOSIS TYPE 1: A REPORT OF 2 PATIENTS JF - Journal of the Portuguese Society of Dermatology and Venereology JA - SPDV VL - 72 IS - 1 SE - Case Reports DO - 10.29021/spdv.72.1.234 UR - https://revista.spdv.com.pt/index.php/spdv/article/view/234 AB - 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. ER -