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痣样基底细胞癌综合征的并发症:一项基于人群的研究结果。

Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.

作者信息

Evans D G, Ladusans E J, Rimmer S, Burnell L D, Thakker N, Farndon P A

机构信息

Department of Medical Genetics, St Mary's Hospital, Manchester.

出版信息

J Med Genet. 1993 Jun;30(6):460-4. doi: 10.1136/jmg.30.6.460.

Abstract

There are many potential complications which have been reported in association with the naevoid basal cell carcinoma syndrome. We have been able to show the relative frequencies of these problems in a population based study of 84 cases in the north west of England. The major complications of basal cell carcinomas and jaw cysts occur in over 90% of patients by 40 years of age, but may both occur before 10 years of age. Less well described complications are ovarian calcification or fibroma (24%), medulloblastoma (5%), cardiac fibroma (3%), cleft palate (5%), and ophthalmic abnormalities such as squint or cataract (26%). This study more clearly defines the possible complications of the syndrome and gives clearer guidelines for counselling and screening affected and at risk persons.

摘要

与痣样基底细胞癌综合征相关的潜在并发症有很多。在一项基于英格兰西北部84例患者的人群研究中,我们得以展示这些问题的相对发生率。到40岁时,超过90%的患者会出现基底细胞癌和颌骨囊肿的主要并发症,但两者都可能在10岁之前出现。描述较少的并发症有卵巢钙化或纤维瘤(24%)、髓母细胞瘤(5%)、心脏纤维瘤(3%)、腭裂(5%)以及斜视或白内障等眼部异常(26%)。这项研究更明确地界定了该综合征可能出现的并发症,并为咨询和筛查受影响及有风险的人群提供了更清晰的指导方针。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d43/1016416/98b136f700b4/jmedgene00008-0015-a.jpg

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