Derm Cases · Dermatology / Genetics / Ophthalmology / Paediatrics
OSCE — oculocutaneous albinism: ocular tetrad, photoprotection, and syndromic red flags
An 8-minute OSCE station on oculocutaneous albinism recognition, ocular tetrad, distinction from vitiligo, photoprotection and skin-cancer vigilance, and red flags for Chédiak-Higashi and Hermansky-Pudlak syndromes.
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Study tools
Target exams
NEET-PGINICETUSMLEPLABMRCP
Prompt
An 8-minute OSCE station on oculocutaneous albinism recognition, ocular tetrad, distinction from vitiligo, photoprotection and skin-cancer vigilance, and red flags for Chédiak-Higashi and Hermansky-Pudlak syndromes.
Brief (to candidate)
Parents bring a toddler with congenital pale skin and hair, nystagmus, and photophobia. A second stem mentions a child with albinism-like features plus recurrent infections and giant granules on blood film. You have 8 minutes to diagnose OCA, organise multidisciplinary care, and catch syndromic danger.
Candidate instructions
- Explain albinism as a melanin production defect (melanocytes present).
- List the ocular tetrad.
- Outline inheritance patterns (AR OCA; XL OA1).
- Plan skin and eye protection and cancer surveillance.
- Screen for CHS and HPS red flags.
Examiner checklist (mark each domain / 10)
| Domain | Key actions expected |
|---|---|
| Core concept | Melanocytes present but melanin synthesis/melanosome biogenesis defective — unlike vitiligo (melanocyte loss)[2][5] |
| Ocular tetrad | Nystagmus, foveal hypoplasia, iris transillumination, photophobia (± reduced acuity, misrouting) — ophthalmology mandatory[4] |
| Genetics | OCA types AR (e.g. TYR OCA1, OCA2 common worldwide/Africa); OA1 X-linked; genetics counselling for family planning[2][5] |
| Skin care | Lifelong rigorous photoprotection, clothing, regular full-skin checks — high SCC/BCC/melanoma risk especially in tropics; biopsy new lesions early, even in childhood in high UV settings[6] |
| CHS red flag | Albinism + infections + giant peroxidase-positive granules → Chédiak-Higashi; accelerated HLH phase risk; haematology/HSCT pathway[3] |
| HPS red flag | Albinism + bleeding diathesis ± pulmonary fibrosis (esp. Puerto Rican founder types) → Hermansky-Pudlak; avoid NSAIDs/antiplatelets; pulmonary follow-up[7] |
| Communication | Multidisciplinary (derm, ophth, genetics, education/low vision); stigma-sensitive counselling |
Model key actions
- Confirm OCA with ocular tetrad and refer ophthalmology/genetics.[2][4]
- Emphasise photoprotection and skin-cancer vigilance.[6]
- Escalate CHS/HPS when infections or bleeding/lung features appear.[3][7]
Common errors
- Calling albinism "vitiligo from birth."
- Ignoring ophthalmology.
- Missing syndromic forms that are transplant- or lung-threatening.
- No skin-cancer education in high-UV climates.
References6ShowHide
- [2]Thomas MG, Zippin J, Brooks BP Oculocutaneous Albinism and Ocular Albinism Overview. GeneReviews, 1993.PMID 37053367
- [3]Talbert ML, Malicdan MCV, Introne WJ. Chediak-Higashi syndrome. Current Opinion in Hematology, 2023.PMID 37254856
- [4]Kruijt CC, de Wit GC, Bergen AA, et al. The Phenotypic Spectrum of Albinism. Ophthalmology, 2018.PMID 30098354
- [5]Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet Journal of Rare Diseases, 2007.PMID 17980020
- [6]Nakkazi E. People with albinism in Africa: contending with skin cancer. Lancet (London, England), 2019.PMID 31423986
- [7]De Jesus Rojas W, Young LR. Hermansky-Pudlak Syndrome. Seminars in Respiratory and Critical Care Medicine, 2020.PMID 32279294