Journal of Asia Pacific Aesthetic Sciences

Abstract: Neurofibromatosis type 1 (NF1) is a genetic, neuroectodermal, and multisystemic disease caused by NF1 loss-of-function variants with an autosomal dominant inheritance pattern. It leads to developmental abnormalities in neural, osseous, and epidermal tissues, resulting in impaired regulation of cell growth and differentiation, and ultimately in tumorigenesis and non-neoplastic manifestations. We report the case of a 59-year-old Filipino female presenting with papules and nodules on the trunk and extremities, as well as macules and patches on the left side of the face, trunk, and extremities. The lesions had been evolving since birth, with no prior consultations or interventions. This report aims to describe a rare presentation of bilateral segmental NF1 with partial unilateral lentiginosis, contributing to the scarce literature on mosaic NF1 variants in the Philippines.

Keywords: Neurofibromatosis type 1, NF1, Neurofibroma, Von Recklinghausen disease, Lentiginosis, Case report