Bilateral segmental neurofibromatosis: a case report and review.
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.
Gonzalez
Gabriel
G
Pediatric Neurology Department, Pereira Rossell Children's Hospital, Montevideo, Uruguay. Viciogon@hotmail.com
Russi
Maria Eugenia
ME
Lodeiros
Amelia
A
D019080:Cafe-au-Lait Spots / Q000235:genetics / Q000473:pathology*; D002648:Child; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D008297:Male; D009030:Mosaicism; D009456:Neurofibromatosis 1 / Q000235:genetics / Q000473:pathology*; D010641:Phenotype