Clinical severity in Japanese patients with neurofibromatosis 1 based on DNB classification

Yuko Ehara, Osamu Yamamoto, Kenjiro Kosaki, Yuichi Yoshida

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
JournalJournal of Dermatology
DOIs
Publication statusAccepted/In press - 2017

Fingerprint

Neurofibromatosis 1
Plexiform Neurofibroma
Inborn Genetic Diseases
Neurologic Manifestations
Dermatology
Japan
Retrospective Studies
Quality of Life
Bone and Bones
Skin

Keywords

  • Clinical severity
  • Diffuse plexiform neurofibromas
  • DNB classification
  • Neurofibromatosis 1
  • Quality of life

ASJC Scopus subject areas

  • Dermatology

Cite this

Clinical severity in Japanese patients with neurofibromatosis 1 based on DNB classification. / Ehara, Yuko; Yamamoto, Osamu; Kosaki, Kenjiro; Yoshida, Yuichi.

In: Journal of Dermatology, 2017.

Research output: Contribution to journalArticle

@article{0c2b53e3103f4404876abeee49bbd85c,
title = "Clinical severity in Japanese patients with neurofibromatosis 1 based on DNB classification",
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.",
keywords = "Clinical severity, Diffuse plexiform neurofibromas, DNB classification, Neurofibromatosis 1, Quality of life",
author = "Yuko Ehara and Osamu Yamamoto and Kenjiro Kosaki and Yuichi Yoshida",
year = "2017",
doi = "10.1111/1346-8138.13902",
language = "English",
journal = "Journal of Dermatology",
issn = "0385-2407",
publisher = "Wiley-Blackwell",

}

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

PY - 2017

Y1 - 2017

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 - Clinical severity

KW - Diffuse plexiform neurofibromas

KW - DNB classification

KW - Neurofibromatosis 1

KW - Quality of life

UR - http://www.scopus.com/inward/record.url?scp=85019924559&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85019924559&partnerID=8YFLogxK

U2 - 10.1111/1346-8138.13902

DO - 10.1111/1346-8138.13902

M3 - Article

JO - Journal of Dermatology

JF - Journal of Dermatology

SN - 0385-2407

ER -