Derm Cases · Dermatology / Genetics / Oncology / Ophthalmology / Paediatrics
OSCE — xeroderma pigmentosum: photoprotection, cancer vigilance, counselling
Station on XP recognition, NER mechanism at overview level, lifelong photoprotection, skin-cancer pathway, ocular/neuro review, and AR counselling.
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Study tools
Target exams
NEET-PGINICETUSMLEPLABMRCPFRCDerm
Prompt
Station on XP recognition, NER mechanism at overview level, lifelong photoprotection, skin-cancer pathway, ocular/neuro review, and AR counselling.
Brief (to candidate)
A consanguineous family brings a child with severe sunburn after minimal exposure, dense freckling on exposed skin, photophobia, and a new ulcerated facial lesion. Diagnose, protect, investigate the lesion, and counsel in 8 minutes.
Candidate instructions
- Name XP and the NER/POLH mechanism at an exam level.
- Institute maximal photoprotection immediately.
- Plan urgent biopsy/excision of the new lesion and surveillance.
- Arrange ophthalmology (± neurology by phenotype).
- Counsel AR recurrence risk and cascade testing.
Examiner checklist
| Domain | Expected |
|---|---|
| Diagnosis | XP: UV sensitivity, freckling, cancer risk; AR NER defect XPA–G or POLH variant[1][2] |
| Protection | SPF50+, UPF clothing, eyewear, window films, shade, vitamin D monitor; adherence matters[3][7] |
| Cancer pathway | Urgent assessment of ulcerated lesion; frequent skin checks; early definitive surgery[3][5] |
| MDT | Ophth always; neuro if group/symptoms; genetics counselling 25% recurrence[1][5] |
| Differential | Cockayne vs XP freckling-cancer pattern briefly[2] |
Model key actions
- Protect today; biopsy suspicious lesions; counsel AR risk; do not wait for the gene report to start UV control.[1][3]
Common errors
- Reassuring freckling as cosmetic.
- Delaying lesion biopsy.
- Forgetting eyes and family counselling.
References5ShowHide
- [1]Kraemer KH, DiGiovanna JJ, Tamura D Xeroderma Pigmentosum. GeneReviews, 1993.PMID 20301571
- [2]Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum. Orphanet J Rare Dis, 2011.PMID 22044607
- [3]Leung AK et al. Xeroderma pigmentosum: an updated review. Drugs Context, 2022.PMID 35520754
- [5]Bradford PT et al. Cancer and neurologic degeneration in xeroderma pigmentosum. J Med Genet, 2011.PMID 21097776
- [7]Walburn J et al. A personalized and systematically designed adherence intervention improves photoprotection in adults with xeroderma pigmentosum (XP): results of the XPAND randomized controlled trial. Br J Dermatol, 2025.PMID 39401796