节段性神经纤维瘤病1例报告

Pratiksha Sonkusale, S. Kar, Pooja Bonde, Komal Ramteke
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引用次数: 0

摘要

神经纤维瘤病(NF)是一种常染色体显性遗传的遗传病,主要影响神经组织细胞的生长。节段性NF(SNF)是NF(V型)的一种罕见变体,其特征是局限于身体某一节段或某一区域的咖啡斑、雀斑或神经纤维瘤。一名26岁已婚女性,左侧颈部和胸部出现无症状的咖啡色斑点和雀斑。病变没有越过中线。家族史不是正面的。没有近亲结婚的历史。没有系统性的参与。我们报告这一病例是一种罕见的NF实体,伴有多发性皮肤瘤。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Segmental neurofibromatosis: A report of a rare case
Neurofibromatosis (NF) is a genetic disorder with an autosomal-dominant inheritance mainly affecting the growth of the cells of the neural tissues. Segmental NF (SNF), a rare variant of NF (NF type V), is characterized by café-au-lait macules and freckles or neurofibromas limited to one segment or one region of the body. A 26-year-old married female presented with asymptomatic café-au-lait macules and freckles involving the left cervical and thoracic region. The lesions did not cross the midline. Family history was not positive. There was no history of consanguineous marriage. There was no systemic involvement. We report this case as a rare entity of NF along with multidermatomal involvement.
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