Bilateral segmental neurofibromatosis: a case report and review
Gabriel Gonzalez1, Maria Eugenia Russi, Amelia Lodeiros
1Pediatric Neurology Department, Pereira Rossell Children's Hospital, Montevideo, Uruguay. Viciogon@hotmail.com
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.
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