CLINICAL REPORT
753 Advances in dermatology and venereology ActaDV Acta Dermato-Venereologica ActaDV
Epidemiological Analysis of Major Complications Requiring Medical Intervention in Patients with Neurofibromatosis 1
Yuichi YOSHIDA 1, Yuko EHARA 1, Monji KOGA 2, Shinichi IMAFUKU 2 and Osamu YAMAMOTO 1
1
Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University, Yonago, and
2
Department of Dermatology, Fukuoka University School of Medicine, Fukuoka, Japan
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.
Key words: neurofibromatosis 1; epidemiology; treatment; survey.
Accepted May 22, 2018; Epub ahead of print May 24, 2018 Acta Derm Venereol 2018; 98: 753 – 756.
Corr: Yuichi Yoshida, Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago-shi, Tottori 683-8503, Japan. E-mail: yxyhifu1 @ med. tottori-u. ac. jp
Neurofibromatosis 1( NF1) is an autosomal dominant genetic disorder with a birth incidence of 1 in 3,000 – 4,000 individuals( 1). NF1 is caused by a mutation of the NF1 gene( 2) and has various complications, including dermatological, neurological and bone manifestations( 3). We recently performed an epidemiological survey of patients with NF1 at the Division of Dermatology of Tottori University Hospital in Japan for assessment of disease severity. The survey found that 37.1 % of patients had major health impairments requiring medical treatment( 4). In addition, two-thirds of patients classified in the most severe grade of NF1 experienced diffuse plexiform neurofibromas with secondary problems. However, the number of patients in that study was relatively
SIGNIFICANCE
Neurofibromatosis 1 is a genetic disease characterized by various symptoms such as dermatological, neurological and bone complications. This study presents the frequencies of complications requiring medical treatment in patients with neurofibromatosis. Our data suggest that most frequently treated symptoms were dermatological complications. It is important to know the characteristic complications requiring treatment in order to provide appropriate care for patients suffering from neurofibromatosis.
small( n = 124) and the survey was limited to the field of dermatology. Since patients with a severe grade of NF1 have been supported by the public medical expenses subsidy system in Japan, we investigated the details of complications in cases requiring medical intervention that were registered in a national database. The aim of this nationwide study was to elucidate the clinical characteristics of NF1 and to determine the frequencies of complications requiring medical intervention.
PATIENTS AND METHODS
This retrospective study investigated clinical information for patients with NF1 registered at the Ministry of Health, Labour and Welfare from 2001 to 2014 from all over Japan. Patients with NF1 with a certain grade of severity are registered for research and exemption of medical fees as a government’ s healthcare policy in Japan. Anonymous data for patients who met the diagnostic criteria of NF1 by the National Institutes of Health in 1988( 5) were analysed( patients for whom essential information, such as age or sex, was missing were excluded). Clinical information, including sex, age, family history and complications, was investigated. Clinical severity was also assessed by both the Japanese severity classification( DNB classification)( 4) and Riccardi’ s severity grade( 6), as shown in Appendices S1 1 and S2 1. The study protocol was approved by the ethics committees of Tottori University Hospital( number 1704A005) and Fukuoka University Hospital( 17-4-03).
RESULTS Patients’ characteristics
Of the 3,530 registered patients, 25 were excluded from the study due to missing essential data. Finally, data for
1 https:// www. medicaljournals. se / acta / content / abstract / 10.2340 / 00015555-2975
This is an open access article under the CC BY-NC license. www. medicaljournals. se / acta Journal Compilation © 2018 Acta Dermato-Venereologica. doi: 10.2340 / 00015555-2975 Acta Derm Venereol 2018; 98: 753 – 756