TY - JOUR
T1 - Clinical severity in Japanese patients with neurofibromatosis 1 based on DNB classification
AU - Ehara, Yuko
AU - Yamamoto, Osamu
AU - Kosaki, Kenjiro
AU - Yoshida, Yuichi
N1 - Funding Information:
ACKNOWLEDGMENTS: This work was partly supported by a Health Labor Sciences Research Grant (to Y. Y.) from the Ministry of Health, Labor and Welfare, and the Platform Project for supporting in Drug Discovery and Life Science Research from the Japan Agency for Medical Research and Development (to Y. Y. and K. K.) and Tottori University Faculty of Medicine Alumni Association Grant (to Y. E.).
Publisher Copyright:
© 2017 Japanese Dermatological Association
PY - 2017/11
Y1 - 2017/11
N2 - 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.
AB - 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.
KW - DNB classification
KW - clinical severity
KW - diffuse plexiform neurofibromas
KW - neurofibromatosis 1
KW - quality of life
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U2 - 10.1111/1346-8138.13902
DO - 10.1111/1346-8138.13902
M3 - Article
C2 - 29098729
AN - SCOPUS:85019924559
SN - 0385-2407
VL - 44
SP - 1262
EP - 1267
JO - Journal of Dermatology
JF - Journal of Dermatology
IS - 11
ER -