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戈林综合征,即痣样基底细胞癌综合征。

Gorlin's syndrome, or nevoid basal cell carcinoma syndrome.

作者信息

Fitzpatrick P J, Thompson G A

出版信息

Can Med Assoc J. 1982 Sep 15;127(6):465-70.

Abstract

Gorlin's syndrome is a condition inherited in an autosomal dominant fashion. It involves many organs, but principally affects the skin, skeleton, and endocrine and nervous systems. The most common features are multiple nervi and basal cell carcinomas of the skin, benign jaw cysts, dyskeratotic pits in the palms and soles, rib and vertebral abnormalities, brachymetacarpalism, and calcification of the falx cerebri. In 14 patients, 4 of whom belonged to one family, the age at the time of diagnosis ranged from 11 to 63 years. Ten patients are alive, but five are severely disfigured by carcinomas. Two patients died of complications resulting from uncontrolled tumours, and two died of other cancers. New skin tumours constantly develop; small ones can be excised, but large ones require extensive surgery with or without radiotherapy.

摘要

戈林综合征是一种常染色体显性遗传疾病。它累及多个器官,但主要影响皮肤、骨骼以及内分泌和神经系统。最常见的特征包括多发性神经鞘瘤和皮肤基底细胞癌、颌骨良性囊肿、手掌和足底的角化不良性凹坑、肋骨和椎骨异常、掌骨短小、大脑镰钙化。14例患者中,有4例来自同一个家庭,诊断时的年龄在11岁至63岁之间。10例患者存活,但有5例因癌症导致严重毁容。2例患者死于肿瘤失控引发的并发症,2例死于其他癌症。新的皮肤肿瘤不断出现;小肿瘤可以切除,但大肿瘤则需要进行广泛的手术,有时还需配合放疗。

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