An Uncommon Presentation of Renal Angiomyolipoma in a Patient with Segmental Neurofibromatosis: A Case Report

Segmental Neurofibromatosis (SNF) occurs sporadically and is characterised by neurofibromas with or without café-au-lait macules confined to an area or segment of the body. It is a rare type of NF and is not usually associated with systemic manifestations. This case report discusses a 39-year-old female with segmentally distributed neurofibromas of the right side of the face in association with Renal Angiomyolipoma (RAML). Knowing this association may help clinicians to suspect, diagnose and treat the RAML at the earliest. Although RAMLs are frequently associated with Tuberous Sclerosis (TS), their occurrence in the case of SNF may be attributed to the shared mTOR signalling pathway targeted in both neurocutaneous syndromes.