罕见的神经纤维瘤病，类似麻风病。

IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL

Journal of the Royal College of Physicians of Edinburgh Pub Date : 2025-03-01 Epub Date: 2025-01-17 DOI:10.1177/14782715241313420

Sonika Garg, Arpita Nibedita Rout, Chandra Sekhar Sirka, Bevan Priyadharshan

引用次数: 0

摘要

1型神经纤维瘤病（NF-1）是一种遗传性疾病，通常以卡萨梅-au-lait斑疹、神经纤维瘤和腋窝雀斑为特征。我们报告一例20岁的女性，双侧颈部肿胀，这些肿胀被误诊为颈淋巴肿大，患者开始抗结核治疗（ATT），但肿胀没有任何改善，尽管ATT 6个月。进一步检查发现大耳，滑车上和眶上神经增厚，并伴有不寻常的雀斑模式沿增厚的神经，提示神经纤维瘤病。患者表现出卡萨梅-奥- lae斑疹，手掌，腹股沟和腋窝雀斑，但没有皮肤神经纤维瘤或麻风病典型的幻觉斑块，这是一个关键的鉴别诊断。家族中有神经纤维瘤病病史。超声示神经增厚，确诊为NF-1。该病例强调了在神经增厚的鉴别诊断中考虑NF-1的必要性，特别是在麻风病和结核病流行地区，以防止误诊和不当治疗。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of the Royal College of Physicians of Edinburgh MEDICINE, GENERAL & INTERNAL-

CiteScore

1.80

自引率

0.00%

发文量

审稿时长

20 weeks

期刊介绍： The Journal of the Royal College of Physicians of Edinburgh (JRCPE) is the College’s quarterly, peer-reviewed journal, with an international circulation of 8,000. It has three main emphases – clinical medicine, education and medical history. The online JRCPE provides full access to the contents of the print journal and has a number of additional features including advance online publication of recently accepted papers, an online archive, online-only papers, online symposia abstracts, and a series of topic-specific supplements, primarily based on the College’s consensus conferences.