Multiple segmental neurofibromatosis: Report of two cases with different presentations

Segmental neurofibromatosis (SNF) is a rare variant of neurofibromatosis type 1 (NF-1) characterised by the occurrence of neurofibromas and/or cafe-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.