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穆尔-托雷综合征——它真的是一种新综合征吗?

Muir-Torre syndrome-is it really a new syndrome?

作者信息

Grzybowski Andrzej, Jabłońska Stefania

机构信息

The Poznań Society of Friends of Learning, Poland.

出版信息

Am J Dermatopathol. 2009 Dec;31(8):799-802. doi: 10.1097/DAD.0b013e3181ba6c56.

DOI:10.1097/DAD.0b013e3181ba6c56
PMID:19955878
Abstract

E.G. Muir and D. Torre independently described widespread cutaneous changes associated with internal malignancy, which are presently known as the Muir-Torre syndrome. This syndrome is defined as the coexistence of sebaceous adenomas, sebaceus carcinomas, keratoacanthomas, and pedunculated tumors, some with lobulated structure. The cutaneous involvement (sebaceous gland tumor) is associated with at least a single internal malignancy; mostly colonorectal or genitourinary malignancies. The syndrome is believed to be very rare, but some cases seem to have been unrecognized or misdiagnosed. It is inherited as an autosomal dominant trait with a variable degree of penetrance. Although Muir and Torre described this syndrome in 1967/1968, we found a report on a very similar case as described by C. Hilton Fagge from Guy Hospital in London, which was published 100 years earlier. In this case, there were very abundant small tumors, some pedunculated, and some deeper ones, with a finely lobulated structure, containing "a hair follicle or the external dermal coat of the follicle." The lobulated structures developed from the sebaceous glands, which were larger than normal, and surrounded by abundant fibrous tissue. For this reason, these changes were described under the misleading name of Molluscum Fibrosum. The clinical description of this case, however, is excellent and enables the recognition of the Muir-Torre syndrome.

摘要

例如,E.G. 缪尔(E.G. Muir)和D. 托雷(D. Torre)分别描述了与内脏恶性肿瘤相关的广泛皮肤变化,目前这被称为缪尔 - 托雷综合征。该综合征的定义为皮脂腺腺瘤、皮脂腺癌、角化棘皮瘤和带蒂肿瘤同时存在,其中一些具有分叶状结构。皮肤受累(皮脂腺肿瘤)与至少一种内脏恶性肿瘤相关;大多数为结直肠癌或泌尿生殖系统恶性肿瘤。该综合征被认为非常罕见,但有些病例似乎未被识别或误诊。它作为常染色体显性性状遗传,具有不同程度的外显率。尽管缪尔和托雷在1967年/1968年描述了这种综合征,但我们发现了一份关于一个与伦敦盖伊医院的C. 希尔顿·法格(C. Hilton Fagge)所描述的非常相似病例的报告,该报告发表于100年前。在这个病例中,有非常多的小肿瘤,一些有蒂,一些位置较深,具有精细的分叶状结构,包含“一个毛囊或毛囊的外部真皮层”。分叶状结构由比正常更大的皮脂腺发展而来,并被丰富的纤维组织包围。因此,这些变化被以误导性的“纤维性软疣”之名描述。然而,这个病例的临床描述非常出色,能够识别出缪尔 - 托雷综合征。

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Muir-Torre syndrome-is it really a new syndrome?穆尔-托雷综合征——它真的是一种新综合征吗?
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