PMID: 18712027Aug 21, 2008Paper

Segmental neurofibromatosis associated with renal angiomyolipomas

Cutis
Kim-Tan Nguyen, Melvin Chiu

Abstract

Segmental neurofibromatosis (SN) is a rare disorder characterized by neurofibromas or neurofibromas with café-au-lait spots limited to one region of the body without crossing the midline. Renal angiomyolipomas (AMLs) are rare benign neoplasms usually found in association with tuberous sclerosis (TS). Similar to neurofibromatosis (NF), TS has a high spontaneous mutation rate and a family history often is absent. Although both are autosomal dominant diseases with neural involvement, there are few reports in the literature demonstrating a link between the 2 disorders. We report a case of SN associated with renal AMLs. To our knowledge, there has been only 1 prior report of renal AML associated with NF type 1 (NF1), and there have been no prior reports of SN associated with AML.

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