OSCE — genodermatoses overview: mechanism map and referral pathway

Brief (to candidate)

Parents bring photo-cards: lifelong scale after collodion membrane; trauma blisters; extreme freckling with childhood BCC; sparse hair with overheating and conical teeth. Map each to a mechanism, name immediate protections, and plan genetics/MDT care in 8 minutes.

Candidate instructions

1. Use a mechanism-first map.
2. State immediate protective care (do not wait for genotype).
3. Outline phenotype-driven genetic testing and counselling.
4. Name surveillance priorities per group.
5. Avoid mislabelling EB as abuse without careful assessment.

Examiner checklist

Model key actions

• Group by mechanism, start protection now, test thoughtfully, counsel clearly.^[1][2]

Common errors

• Waiting for genetics before photoprotection in XP.
• Ordering unfocused whole genome without phenotype.
• Missing multi-system disease.