Segmental neurofibromatosis: report of two cases of this rare entity and brief review of the literature

Abstract

Neurofibromatosis (NF) is a group of rare genetic disorder of neural crest derived cells of which neurofibromatosis type-1 is the most common. Riccardi classified NF into eight subtypes (NF-I to NF-VIII), of which NF-V is segmental neurofibromatosis (SNF). SNF is rare and facial involvement is even rarer. A 52-year-old man presented with complaints of numerous swellings on the right side of his face for the last 20 years. On examination, there were many papules and papulo-nodules only on the right cheek. The swellings were non-tender, firm on palpation and measured from 3 mm to 12 mm in diameter. A biopsy was taken from one of the nodules; the slide revealed non-encapsulated but well circumscribed proliferation of spindle cells with wavy, buckled nuclei arranged in wavy fascicles in myxoid background. This case of facial SNF is described not only for its extreme rarity, but also as an important differential diagnosis for facial tumor-like papules. We have also reviewed the literature briefly.