Genodermatoses - Opportunities for Early Detection and Cancer Prevention

Area of Science:

• Dermatology
• Genetics
• Oncology

Background:

• Adult-onset genodermatosis-associated hereditary cancer predisposition syndromes are challenging to diagnose due to diverse clinical presentations.
• These rare genetic conditions require multidisciplinary expertise for accurate identification.

Purpose of the Study:

• To review the clinical features of major adult-onset genodermatosis-associated hereditary cancer predisposition syndromes.
• To guide clinicians in identifying potential cases through cutaneous and non-malignant signs.
• To propose triage criteria for remote consultations in cancer genetics services.

Main Methods:

• Literature review of genodermatosis-associated hereditary cancer predisposition syndromes.
• Emphasis on non-malignant and cutaneous manifestations.
• Development of triage criteria for remote patient assessment.

Main Results:

• Genodermatosis-associated hereditary cancer syndromes present with a wide spectrum of clinical features.
• Cutaneous and non-malignant findings can serve as crucial diagnostic clues.
• Proposed triage criteria can facilitate remote identification of at-risk patients.

Conclusions:

• Increased clinician awareness of genodermatosis-associated hereditary cancer predisposition syndromes is vital.
• Early diagnosis enables timely implementation of cancer risk-reduction measures.
• The proposed triage criteria support efficient patient management in genetics services.