Institute of Genetic Medicine, Centre for Life, Newcastle upon Tyne, UK.
Clin Med (Lond). 2017 Dec;17(6):562-567. doi: 10.7861/clinmedicine.17-6-562.
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.
本文概述了一些具有多种遗传性皮肤肿瘤为特征的特定遗传性皮肤疾病。起源于皮肤结构（如毛发、汗腺和皮脂腺）的皮肤肿瘤称为皮肤附属器肿瘤。这些肿瘤并不常见，但可能对患者护理具有重要意义。某些附属器肿瘤，特别是当多个病变出现时，可能表明存在潜在的遗传状况。这些肿瘤可能没有表现出允许做出明确诊断的临床特征，因此需要进行活检和皮肤病理评估。结合全面的临床评估，活检结果可指导遗传检测，因为这些疾病的致病基因越来越多地被发现。在这里，我们回顾了附属器肿瘤的典型示例以及遗传发现方面的相关进展，并提出了何时需要考虑转介给遗传学家的建议。
