Archive

Spring 2016, Vol. 24 No. 1

Hong Kong J. Dermatol. Venereol. (2016) 24, 34-39

Case Report

Multiple segmental neurofibromatosis: Report of two cases with different presentations

多發性節段性神經纖維瘤：二例以不同方式呈現之個案報告

CH Chu 朱建和, TC Chou 周采青, CI Liu 劉權毅, CS Hsu 許至昇, JY Chan 詹融怡, CL Ou 歐佳嵐

Abstract

Segmental neurofibromatosis (SNF) is a rare variant of neurofibromatosis type 1 (NF-1) characterised by the occurrence of neurofibromas and/or café-au-lait macules (CALMs) limited to an area or a segment of the body. It is caused by a postzygotic mutation of the NF-1 gene, resulting in a phenotype of genetic mosaicism. Genetic mutations may occur in both somatic and gonadal cell lines. Early recognition of SNF and offering genetic counselling are important because the patients of SNF may have offspring with full-brown neurofibromatosis type 1. Herein, we report two cases of multiple SNF with different presentations: one presents with both neurofibromas and CALMs, the other presents with isolated neurofibromas.

節段性神經纖維瘤為第一型多發性神經纖瘤(NF-1)的少見變異型，典型症狀為在身體局部或體表神經節出現多個神經纖瘤以及/或者咖啡牛奶斑，目前認為是NF-1基因發生接合子後的體細胞突變所造成，由於基因突變不只影響體細胞，性腺細胞也可能受影響，意謂著患有節段性神經纖維瘤個案之後代可能罹患第一型多發性神經纖瘤，早期辨認出節段性神經纖維瘤並提供遺傳諮詢是非常重要的，在此我們將報告二例以不同方式呈現的多發性節段性神經纖維瘤之個案。

Keywords: Café-au-lait macule, segmental neurofibromatosis, neurofibroma

關鍵詞: 咖啡牛奶斑、節段性神經纖維瘤、神經纖維瘤