Genodermatoses - Opportunities for Early Detection and Cancer Prevention

Curr Genet Med Rep. 2022;10(1):1-13. doi: 10.1007/s40142-022-00203-y. Epub 2022 Oct 4.

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.

Keywords: Cancer risk; Cancer susceptibility; Genodermatoses; Hereditary cancer; Inherited skin.

Publication types

  • Review