Von Recklinghausen's Disease: An actual view from Plastic and Reconstructive Surgery

Abstract

Background: Neurofribromatosis type 1 (NF1), also known as von Recklinghausen disease, is the most common type of neurogenetic disorder with a worldwide incidence of between 1 in 2,600 and 1 in 3,000. The approach and treatment of NF1 must be multidisciplinary because of the complexity of the disease. There is no specific treatment for NF1. Plastic surgeons are frequently involved in the surgical management of patients with head and neck involvement.Case presentation: A 42-year-old man patient presents with the diagnosis of NF1. A multidisciplinary approach was carried out. MRI ruled out CNS involvement. Due to the extension of the plexiform neurofibromas and the absence of donor areas for skin grafts, surgical resection of neurofibromas that compromised facial aesthetic subunits, as well as those in the larger joint and fold sites, was performed. The procedure was performed with two teams of plastic surgeons, performing an immediate reconstruction. The patient was discharged without complications.Discussion: NF1 is the most common variant and represents up to 97% of all diagnosed neurofibromatosis. Neurofibromas are benign tumors, and most of them begin to appear near puberty, and their location can affect any anatomical site. The craniofacial area and the neck are affected in more than 10% of all cases and are the most affected by plexiform neurofibromas. There is no effective treatment to prevent disease progression. Patients' priority from the point of view of plastic surgery is a functional and aesthetic correction, avoiding facial and body disfigurements. Today, there is no accepted gold standard surgical technique.Conclusion: The approach and treatment of these patients must be through a multidisciplinary group due to their high complexity. The plastic surgeon's treatment should focus on the restoration of function as a priority and restoration of aesthetics as a secondary goal. Careful and individualized pre-surgical planning must be done.