基于 DNB 分类的日本 1 型神经纤维瘤病患者的临床严重程度。

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

机构信息

Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University, Yonago.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

出版信息

J Dermatol. 2017 Nov;44(11):1262-1267. doi: 10.1111/1346-8138.13902. Epub 2017 May 18.

DOI:10.1111/1346-8138.13902

PMID:29098729

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.

摘要

神经纤维瘤病 1 型（NF1）是一种遗传疾病，其特征为皮肤、神经和骨骼并发症。尽管 NF1 的临床表现多种多样，但尚无关于 NF1 患者严重程度评估的报道。为了阐明 NF1 的严重程度，我们于 2007 年至 2016 年对鸟取大学医院皮肤科的 124 例 NF1 患者进行了回顾性研究。采用日本的 DNB 分类（皮肤、神经和骨骼表现）进行评估。基于我们目前的流行病学数据，有 55 例（44.3%）患者处于 1 期，23 例（18.6%）处于 2 期，3 例（2.4%）处于 3 期，1 例（0.8%）处于 4 期，42 例（33.9%）处于 5 期。NF1 患者的严重程度随年龄增长而趋于更高。值得注意的是，5 期患者中有 61.8%患有弥漫性丛状神经纤维瘤，伴有功能障碍。我们应该注意弥漫性丛状神经纤维瘤，它会极大地影响 NF1 患者的生活质量。