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与淋巴管肌瘤样病变相关的班纳扬-佐纳纳综合征

Bannayan-Zonana syndrome associated with lymphangiomyomatous lesions.

作者信息

Klein J A, Barr R J

机构信息

Department of Dermatology, California College of Medicine, University of California-Irvine.

出版信息

Pediatr Dermatol. 1990 Mar;7(1):48-53. doi: 10.1111/j.1525-1470.1990.tb01073.x.

Abstract

Bannayan-Zonana syndrome is an autosomal dominant condition that has not been well described in the dermatology literature. The typical case is characterized by macrocephaly, multiple angiomas, and multiple encapsulated or infiltrating lipomas. As in other autosomal dominant hamartoneoplastic syndromes, the degree of expression within one family frequently varies widely. Our patient had macrocephaly and angiomas, as well as lipomas with peculiar histologic features similar to lymphangiomyomas. Her father had a large nevus flameus on his leg, and lipomas with normal histologic appearance. The paternal grandfather had multiple encapsulated lipomas with normal histologic appearance. Neither father nor grandfather had macrocephaly.

摘要

班纳扬-佐纳纳综合征是一种常染色体显性疾病,皮肤病学文献中对此描述不多。典型病例的特征为巨头畸形、多发性血管瘤以及多发性包膜性或浸润性脂肪瘤。与其他常染色体显性错构瘤性肿瘤综合征一样,一个家族内的表达程度常常差异很大。我们的患者有巨头畸形和血管瘤,还有组织学特征奇特、类似于淋巴管肌瘤的脂肪瘤。她的父亲腿部有一个巨大的火焰状痣,还有组织学外观正常的脂肪瘤。祖父有多个组织学外观正常的包膜性脂肪瘤。父亲和祖父都没有巨头畸形。

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