Epidemiological Analysis of Major Complications Requiring Medical Intervention in Patients with Neurofibromatosis 1

• Main Authors: Yuichi Yoshida, Yuko Ehara, Monji Koga, Shinichi Imafuku, Osamu Yamamoto
• Format: Article
• Language: English
• Published: Society for Publication of Acta Dermato-Venereologica 2018-06-01
• Series: Acta Dermato-Venereologica
• Subjects: neurofibromatosis1; epidemiology; treatment; survey
• Online Access: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-2975

Neurofibromatosis 1 has various complications. To elucidate the frequency of neurofibromatosis 1-related major complications requiring medical intervention, a nationwide retrospective study was conducted of 3,530 patients with neurofibromatosis 1 registered from 2001 to 2014 in Japan. The ratio of certified patients requiring medical intervention (>stage 3) was 82%. Patients classified in the most severe grade experienced dermatological complications (71.8% of patients), neurological complications (38.1%) and bone complications (33.3%). In patients with dermatological manifestations, medical treatment was needed for cutaneous neurofibromas (58%), diffuse plexiform neurofibromas (31%) and malignant peripheral nerve sheath tumours (10%). Patients with neurological manifestations needed medical treatment mainly for brain tumours (53%) and intellectual disability (26%). Patients with bone manifestations needed medical treatment for pseudoarthrosis (9%), scoliosis (55%) and bone defects (16%). It is necessary for physicians to be aware of neurofibromatosis 1-related complications requiring medical intervention in order to provide appropriate care for patients with neurofibromatosis 1.