Inherited skin tumour syndromes
Inherited skin tumour syndromes
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DOI：
10.7861/clinmedicine.17-6-562
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发表时间：
2017-12-01
影响因子：
4.4
通讯作者：
Rajan, Neil
中科院分区：
文献类型：
--
作者：
Brown, Sarah;Brennan, Paul;Rajan, Neil
本文提供了一个概述选定的遗传性皮肤条件，其中多个遗传性皮肤肿瘤是一个中心功能。从皮肤结构如毛发、汗腺和皮脂腺产生的皮肤肿瘤称为皮肤附属器肿瘤。这些肿瘤并不常见，但可能对患者护理产生重要影响。某些附件肿瘤，特别是当看到多个病变时，可能表明潜在的遗传条件。这些肿瘤可能不显示允许进行安全诊断的临床特征，需要进行活检和皮肤病理学评估。再加上强大的临床评估，活检结果可以指导基因检测，因为越来越多的致病基因是已知的这些条件。在这里，我们回顾说明性的例子，阑尾肿瘤和相关进展的遗传发现，并建议当转介到遗传学家可能需要考虑。
This article provides an overview of selected genetic skin conditions where multiple inherited cutaneous tumours are a central feature. Skin tumours that arise from skin structures such as hair, sweat glands and sebaceous glands are called skin appendage tumours. These tumours are uncommon, but can have important implications for patient care. Certain appendageal tumours, particularly when multiple lesions are seen, may indicate an underlying genetic condition. These tumours may not display clinical features that allow a secure diagnosis to be made, necessitating biopsy and dermatopathological assessment. Coupled with robust clinical assessment, biopsy findings can guide genetic testing as, increasingly, the causative genes are known for these conditions. Here we review illustrative examples of appendageal tumours and relevant advances made in genetic discovery, and suggest when referral to a geneticist may need to be considered.