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半侧面部增生伴脑膜受累:变形综合征的一种变异型?

Hemifacial hyperplasia with meningeal involvement: a variant of proteus syndrome?

作者信息

Haramoto U, Kobayashi S, Ohmori K

机构信息

Division of Plastic and Reconstructive Surgery, Tokyo Metropolitan Police Hospital, Japan.

出版信息

Am J Med Genet. 1995 Nov 6;59(2):164-7. doi: 10.1002/ajmg.1320590210.

Abstract

We report on a sporadic case of hemifacial hamartomatous hyperplasia. The patient is male, and has sebaceous nevus-like skin change, subcutaneous lipomatous mass, cranial bone hyperplasia, and bony change of meninges. His lesion involves the anterior half of the face and cranial base, and, medially, is delimited by the midline. No case has been found identical to this in the literature, particularly with respect to the unusual meningeal lesion. However, without this meningeal lesion the rest of the manifestations are not uncommon in Proteus syndrome. Also, this case may be an indication of somatic mosaicism, lethal in its nonmosaic state. Thus, this case may be thought of as a variant of Proteus syndrome.

摘要

我们报告了一例散发性半侧面部错构瘤样增生病例。患者为男性,有皮脂腺痣样皮肤改变、皮下脂肪瘤块、颅骨增生以及脑膜骨质改变。其病变累及面部前半部分和颅底,内侧以中线为界。在文献中未发现与此完全相同的病例,特别是关于这种不寻常的脑膜病变。然而,若没有这种脑膜病变,其余表现在变形综合征中并不罕见。此外,该病例可能提示体细胞镶嵌现象,其非镶嵌状态可能是致死性的。因此,该病例可被视为变形综合征的一种变体。

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