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[砂粒样黑色素性神经鞘瘤作为Carney综合征的指标]

[Psammomatous melanotic schwannoma as indicator of a Carney complex].

作者信息

Seidl M, Zolnhofer G, Gunser S, Ennker J, Schäfer W, Tietze L

机构信息

Institut für Pathologie, Universitätsklinikum Freiburg, Freiburg, Germany.

出版信息

Pathologe. 2013 Jul;34(4):343-6. doi: 10.1007/s00292-012-1736-z.

Abstract

Within a few months a 31-year-old female patient was diagnosed with a psammomatous melanotic schwannoma, an atrial myxoma and microfollicular adenomas in both thyroid lobes. Therefore, sufficient diagnostic criteria of a Carney complex were fulfilled. The Carney complex is an inherited autosomal dominant disorder with highly variable phenotypes, which was initially described by Carney in 1985 as a complex of myxomas, spotty skin pigmentation and endocrine overactivity. Pathologists should consider this differential diagnosis in reports when confronted with a psammomatous melanotic schwannoma.

摘要

几个月内,一名31岁女性患者被诊断出患有砂粒体性黑色素性神经鞘瘤、心房黏液瘤以及双侧甲状腺叶的微滤泡性腺瘤。因此,满足了卡尼综合征的充分诊断标准。卡尼综合征是一种具有高度可变表型的常染色体显性遗传性疾病,最初由卡尼于1985年描述为黏液瘤、皮肤斑点状色素沉着和内分泌功能亢进的综合征。病理学家在报告中遇到砂粒体性黑色素性神经鞘瘤时应考虑这种鉴别诊断。

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