Genodermatoses - Opportunities for Early Detection and Cancer Prevention.

IF 1.3 Q4 GENETICS & HEREDITY Current genetic medicine reports Pub Date : 2022-01-01 Epub Date: 2022-10-04 DOI:10.1007/s40142-022-00203-y
Helena Carley, Anjana Kulkarni
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Abstract

Purpose of review: This review describes the clinical features of the major adult-onset genodermatosis-associated hereditary cancer predisposition syndromes. Diagnosis of these conditions can be challenging due to a wide range of clinical features, varied presentations within families and the involvement of multiple medical specialities.

Recent findings: By emphasising the cutaneous and other non-malignant features, we aim to alert clinicians from all specialities to clues in the clinical history which should prompt consideration of a genodermatosis-associated hereditary cancer predisposition syndrome. In recognition of the move towards remote (telephone or video) appointments since the Covid-19 pandemic, we propose criteria which could be used by Cancer Genetics services to triage patients for in-person consultations in order to examine for signs of genodermatosis.

Summary: Although individually rare, familiarity with these conditions amongst genetic and non-genetic clinicians is important as early diagnosis provides an opportunity to implement risk-reduction measures prior to a cancer diagnosis.

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遗传性皮肤病-早期发现和癌症预防的机会。
综述目的:本综述描述了主要的成人发病的遗传性皮肤病相关的遗传性癌症易感性综合征的临床特征。由于广泛的临床特征,不同家庭的表现和多个医学专业的参与,这些条件的诊断可能具有挑战性。最近的发现:通过强调皮肤和其他非恶性特征,我们的目的是提醒所有专业的临床医生注意临床病史中的线索,这些线索应该提示人们考虑遗传性皮肤病相关的遗传性癌症易感性综合征。鉴于自2019冠状病毒病大流行以来向远程(电话或视频)预约的转变,我们提出了癌症遗传学服务部门可用于对患者进行面对面咨询的分类标准,以检查遗传性皮肤病的迹象。摘要:尽管个别罕见,熟悉这些情况的遗传和非遗传临床医生是很重要的,因为早期诊断提供了一个机会,在癌症诊断之前实施降低风险的措施。
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