{"title":"遗传性皮肤病-早期发现和癌症预防的机会。","authors":"Helena Carley, Anjana Kulkarni","doi":"10.1007/s40142-022-00203-y","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>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.</p><p><strong>Recent findings: </strong>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.</p><p><strong>Summary: </strong>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.</p>","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"10 1","pages":"1-13"},"PeriodicalIF":1.4000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9531856/pdf/","citationCount":"0","resultStr":"{\"title\":\"Genodermatoses - Opportunities for Early Detection and Cancer Prevention.\",\"authors\":\"Helena Carley, Anjana Kulkarni\",\"doi\":\"10.1007/s40142-022-00203-y\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose of review: </strong>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.</p><p><strong>Recent findings: </strong>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.</p><p><strong>Summary: </strong>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.</p>\",\"PeriodicalId\":72731,\"journal\":{\"name\":\"Current genetic medicine reports\",\"volume\":\"10 1\",\"pages\":\"1-13\"},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2022-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9531856/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current genetic medicine reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s40142-022-00203-y\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/10/4 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current genetic medicine reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s40142-022-00203-y","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/10/4 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Genodermatoses - Opportunities for Early Detection and Cancer Prevention.
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.