颅内肿块病变和腋窝皮肤变色是 Erdheim-Chester 病的不常见线索：一例报告。
Intracranial mass lesions and skin discoloration in the armpits as unusual clues to Erdheim-Chester disease: a case report.
机构信息
Division of Neurology, Department of Clinical Medicine, Universidade Federal do Ceará, Fortaleza, Brazil.
Division of Radiology, Universidade Federal do Ceará, Fortaleza, Brazil.
出版信息
BMC Neurol. 2021 Feb 18;21(1):81. doi: 10.1186/s12883-021-02107-w.
BACKGROUND
Erdheim-Chester disease (ECD) is a non-Langerhans histiocytosis that results in multi-organ disease involving the skin, bones, lungs and kidneys. Central nervous system (CNS) involvement occurs in about 50 % of patients, and diabetes insipidus, visual disturbances, and cerebellar ataxia are the most frequent neurological signs. We report a case of Erdheim-Chester disease with central nervous system involvement in the form of enhancing intracranial mass lesions with massive edema.
CASE PRESENTATION
The patient presented with vertigo, ataxia, encephalopathy and pyramidal signs. Diagnosis was suggested by xanthomatous skin lesions and a biopsy was compatible with Erdheim-Chester disease demonstrating xanthogranulomas CD68 positive (clone KP1) and CD1a and S100 negative. Testing for BRAF mutation was negative, which precluded treatment with Vemurafenib. Treatment with steroids and interferon resulted in improvement of neurological signs and regression of edema on MRI.
CONCLUSIONS
The diagnosis of Erdheim-Chester disease should be considered in intracranial mass lesions. Xanthomatous skin lesions are a clue to the diagnosis.
背景
埃尔德海姆-切斯特病（ECD）是一种非朗格汉斯细胞组织细胞增生症，可导致多器官疾病，涉及皮肤、骨骼、肺部和肾脏。中枢神经系统（CNS）受累约发生在 50%的患者中，而尿崩症、视力障碍和小脑共济失调是最常见的神经体征。我们报告一例中枢神经系统受累的埃尔德海姆-切斯特病，表现为颅内肿块伴大片水肿强化。
病例介绍
患者出现眩晕、共济失调、脑病和锥体束征。黄瘤性皮肤病变提示诊断，活检符合埃尔德海姆-切斯特病，表现为 CD68 阳性（克隆 KP1）和 CD1a 和 S100 阴性的黄色肉芽肿。BRAF 突变检测阴性，排除使用维莫非尼治疗。皮质类固醇和干扰素治疗改善了神经体征，MRI 显示水肿消退。
结论
颅内肿块病变应考虑埃尔德海姆-切斯特病的诊断。黄瘤性皮肤病变是诊断的线索。
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