Dermatologic Manifestations of Neurofibromatosis Type 1 and Emerging Treatments

Neurofibromatosis type 1 (NF1) is a genetic neurophakomatosis (neuroectodermal disorder) associated with a wide array of skin findings. The most recognizable feature is cutaneous neurofibromas; however, less common dermatologic stigmata may also occur. Currently, there are limited therapeutic options for the cutaneous manifestations of NF1. This review summarizes the dermatologic sequelae of NF1 and provides an update on emerging treatments. Appropriate care of these patients often requires interdisciplinary collaboration between neurologists, oncologists, and dermatologists, among other specialties. Increased awareness of these conditions is crucial for providing adequate care to patients with NF1.Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that increases one's risk for both benign and malignant tumors. NF1 affects every organ in the body, but the most distinctive symptoms that are often the most bothersome to patients are the cutaneous manifestations, which can be unsightly, cause pain or pruritus, and have limited therapeutic options. In an effort to increase awareness of lesser-known dermatologic associations and to promote multidisciplinary care, we conducted a narrative review to shed light on dermatologic associations of NF1 as well as emerging treatment options. Topics covered include cutaneous neurofibromas, plexiform neurofibromas, diffuse neurofibromas, distinct nodular lesions, malignant peripheral nerve sheath tumors, glomus tumors, juvenile xanthogranulomas, skin cancer, and cutaneous T-cell lymphoma.

Automated summary

Neurofibromatosis type 1 (NF1) is a genetic neuroectodermal disorder associated with various skin findings, including cutaneous neurofibromas. There are limited treatment options for the cutaneous manifestations of NF1, and interdisciplinary collaboration is often necessary for the appropriate care of these patients. Increased awareness of NF1 and its dermatologic associations is important for providing adequate care to patients.