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

• Main Authors: Yuichi Yoshida (Author), Yuko Ehara (Author), Monji Koga (Author), Shinichi Imafuku (Author), Osamu Yamamoto (Author)
• Format: Book
• Published: Medical Journals Sweden, 2018-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 0001-5555; 1651-2057; 10.2340/00015555-2975
• Keywords: neurofibromatosis1; epidemiology; treatment; survey; Dermatology; RL1-803
• Source: Acta Dermato-Venereologica, Vol 98, Iss 8, Pp 753-756 (2018)

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.