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Neurofibromatosis Type 1 in A 32 Years Old Female: An Interesting Case Report

机译:一名32岁女性的1型神经纤维瘤病:有趣的病例报告

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Neurofibromatosis (NF) is characterized by neuroectodermal tumours arising within multiple organs withautosomal-dominant inheritance. Neurofibromatosis type I (NF-1), known as well as Recklinghausen’s disease, is themost common type of the disease accounting 90% of thecases. We present a case of 32-year old woman with NF-1. The-disease started inchildhood with the appearance of multiple hyper pigmented skin macules. At the age of 26 cutaneous tumours appeared all over the body surface. Because of progressive disfiguration, the patient came for aclinical examination at the age of 32 years. The point is to stress upon the fact that a diagnosis of NF1 is often delayed till the patient develops some disfiguring lesionsor progressive visual or hearing problem.
机译:神经纤维瘤病(NF)的特征是神经外胚层肿瘤发生在具有常染色体显性遗传的多个器官内。 I型神经纤维瘤病(NF-1)与雷克林豪森氏病一样,是最常见的一种,占90%的病例。我们提出了一例32岁的NF-1患者。这种疾病始于儿童期,出现了多个色素沉着的皮肤黄斑。在26岁时,皮肤肿瘤遍布全身。由于进行性变相,患者在32岁时接受了临床检查。重点是要强调这样一个事实,即通常会延迟NF1的诊断,直到患者出现一些毁容性病变或进行性视觉或听力问题。

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