首页> 外文期刊>Pediatric dermatology >Multiple cutaneous plexiform schwannomas as initial presentation of neurofibromatosis 2 in a 9-year-old.
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Multiple cutaneous plexiform schwannomas as initial presentation of neurofibromatosis 2 in a 9-year-old.

机译:多发性皮肤丛状神经鞘瘤作为9岁儿童神经纤维瘤病2的初步表现。

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摘要

Neurofibromatosis 2 (NF2) is an autosomal-dominant disease caused by genetic mutations of the NF2 gene on chromosome 22. Patients are often diagnosed according to the presence of bilateral vestibular schwannomas and other tumors in the brain and spinal cord. In children, NF2 can present early with ocular findings and cutaneous tumors. We report here a 9-year-old girl who presented with multiple pigmented, slightly tender plaques on her scalp, face, and back that were revealed by histopathology to be plexiform schwannomas. We suspected NF2 and sent the patient's blood for genetic testing, which confirmed our diagnosis.
机译:神经纤维瘤病2(NF2)是由22号染色体上NF2基因的遗传突变引起的常染色体显性疾病。通常根据脑和脊髓中双侧前庭神经鞘瘤和其他肿瘤的存在来诊断患者。对于儿童,NF2可以早期出现眼部表现和皮肤肿瘤。我们在这里报告了一个9岁的女孩,她的头皮,面部和背部呈现出多个色素沉着的,微弱的斑块,经组织病理学检查发现是丛状神经鞘瘤。我们怀疑NF2并将患者的血液送去进行基因检测,这证实了我们的诊断。

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