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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.
SUBMITTER: Carley H
PROVIDER: S-EPMC9531856 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
Carley Helena H Kulkarni Anjana A
Current genetic medicine reports 20221004 1
<h4>Purpose of review</h4>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.<h4>Recent findings</h4>By emphasising the cutaneous and other non-malignant features, we aim to alert clinicians from all specialities to clues in the cl ...[more]