[Plastic surgical treatment of neurofibromatosis type 1].

Abstract

Neurofibromatosis type 1 (NF1, formerly Recklinghausen's disease) is a genetic tumor predisposition syndrome in which the mutation of a tumor suppressor gene (neurofibromin) leads to the development of mostly benign neurofibromas of the skin and the central and peripheral nervous systems and malformations or tumors of other organ systems. Patients with NF1 should receive lifelong interdisciplinary care in specialized centers and important treatment decisions should be made by a regularly meeting interdisciplinary panel of experts. Plastic surgery plays an important role in the multidisciplinary management of all clinical forms of NF1-associated peripheral nerve sheath tumors, from cutaneous and subcutaneous to deep nodular and diffuse plexiform neurofibromas. Each patient requires individualized surgical planning, whereby the timing and extent of surgery are determined by the accompanying symptoms, functional and esthetic limitations, disease progression and potential malignant transformation. As any region of the body can be affected, the esthetic and reconstructive procedures required include a wide range of interventions, such as eyelid surgery and facial restoration to breast shaping and nerve reconstruction or motor replacement surgery. A timely surgical intervention can have a profoundly positive effect on the course of the disease and the quality of life of those affected and, in the case of transformation into a malignant peripheral nerve sheath tumor (MPNST), can even be lifesaving.