File
Authors
Ehara, Yuko Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine,Tottori University
Yamamoto, Osamu Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University Researchers DB KAKEN
Kosaki, Kenjiro Center for Medical Genetics, Keio University School of Medicine
Yoshida, Yuichi Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University Researchers DB KAKEN
Keywords
clinical severity
diffuse plexiform neurofibromas
DNB classification
neurofibromatosis 1
quality of life
Abstract
Neurofibromatosis 1 (NF1) is a genetic disease characterized by cutaneous, neurological and osseous complications. Although clinical manifestations of NF1 are variable, there has been no report on evaluation of severity in patients with NF1. To elucidate the grade of severity of NF1, a retrospective study was conducted in 124 NF1 patients at the Department of Dermatology of Tottori University Hospital in 2007–2016. The DNB classification (dermatological, neurological and bone manifestations) in Japan was used for assessment. Based on our current epidemiological data, there were 55 patients (44.3%) in stage 1, 23 (18.6%) in stage 2, three (2.4%) in stage 3, one (0.8%) in stage 4 and 42 (33.9%) in stage 5. The grade of severity in patients with NF1 tended to be higher with aging. Remarkably, 61.8% of the patients in stage 5 had diffuse plexiform neurofibromas with functional disability. We should pay attention to diffuse plexiform neurofibromas that greatly affect quality of life in patients with NF1.
Publisher
WILEY
Content Type
Journal Article
Link
ISSN
03852407
EISSN
13468138
NCID
AA00696658
Journal Title
JOURNAL OF DERMATOLOGY
Current Journal Title
JOURNAL OF DERMATOLOGY
Volume
44
Issue
11
Start Page
1262
End Page
1267
Published Date
2017-11
Publisher-DOI
Text Version
Author
Rights
(C) 2017 Japanese Dermatological Association
Citation
Ehara Yuko, Yamamoto Osamu, Kosaki Kenjiro, et al. Clinical severity in Japanese patients with neurofibromatosis 1 based on DNB classification. JOURNAL OF DERMATOLOGY. 2017. 44(11). 1262-1267. doi:10.1111/1346-8138.13902
Department
Faculty of Medicine/Graduate School of Medical Sciences/University Hospital
Language
English
Web of Science Key ut
WOS:000414362100028