Multiple segmental neurofibromatosis

摘要

Neurofibramatosis (NF) is a genetically-inherited disorder in which nerve tissue gives rise to tumors. Riccardi classified NF into eight subtypes, based upon clinical manifestations, genetic transmission and prognosis. Segmental NF (neurofibromatosis type V) is a rare variant of NF in which cafe-au-iait macules and/or neurofibromas are confined to a circumscribed body segment.1 The affected area, however, can vary in size from a narrow strip to an area encompassing half of the body. Lesions are usually unilateral, although there are reports of bilateral segmental NF.2 We describe a patient who showed multiple segmental expressions of the disease. To our knowledge, this is the first case of multiple segmental NF.