Bilateral segmental neurofibromatosis: a case report and review.

Journal: Pediatric Neurology
Published:
Abstract

Bilateral segmental neurofibromatosis is a rare condition characterized by the occurrence of neurofibromas and/or café-au-lait spots limited to an area or segment of the body bilaterally. It is caused by a postzygotic mutation in the neurofibromatosis type I gene, resulting in a phenotype of genetic mosaicism. This report describes a case of bilateral segmental neurofibromatosis with multiple nodules sitting on a café-au-lait spot.

Authors
Gabriel Gonzalez, Maria Russi, Amelia Lodeiros