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类似巨大色素痣的非冯雷克林霍增氏神经纤维瘤病

Non-von Recklinghausen's neurofibromatosis resembling a giant pigmented nevus.

作者信息

Bousema M T, Vuzevski V D, Oranje A P, Heule F, Stolz E, van Joost T

机构信息

Department of Dermato-Venereology, Erasmus University, Rotterdam, The Netherlands.

出版信息

J Am Acad Dermatol. 1989 Feb;20(2 Pt 2):358-62. doi: 10.1016/s0190-9622(89)70046-3.

Abstract

We report the case of a 30-year-old female patient with non-von Recklinghausen's neurofibromatosis. In our opinion it does not fit within a system of classification recently described. Clinically, the abnormality resembled a giant pigmented nevus; however, light- and electron microscopy findings were consistent with those of a neurofibroma. No other symptoms of classic neurofibromatosis or other diseases were present. The family history showed no evidence of neurofibromatosis. To the best of our knowledge this manifestation of non-von Recklinghausen's neurofibromatosis has not been previously described. The cause and the inheritance pattern of this variant are not clear.

摘要

我们报告了一例30岁非冯雷克林霍增氏病神经纤维瘤病的女性患者。我们认为它不符合最近描述的分类系统。临床上,该异常类似于巨大色素痣;然而,光镜和电镜检查结果与神经纤维瘤一致。未出现经典神经纤维瘤病或其他疾病的其他症状。家族史中没有神经纤维瘤病的证据。据我们所知,这种非冯雷克林霍增氏病神经纤维瘤病的表现此前尚未有过描述。这种变异型的病因和遗传模式尚不清楚。

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