Derm Cases · Dermatology / Paediatrics / Neurology / Ophthalmology
OSCE — Sturge-Weber syndrome: V1 port-wine stain screening and MDT plan
An 8-minute OSCE on recognising facial port-wine stain as a capillary malformation, GNAQ mosaicism, mandatory Sturge-Weber screening for V1 distribution, and multidisciplinary management.
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Study tools
Target exams
NEET-PGINICETUSMLEPLABMRCPFRCDerm
Prompt
An 8-minute OSCE on recognising facial port-wine stain as a capillary malformation, GNAQ mosaicism, mandatory Sturge-Weber screening for V1 distribution, and multidisciplinary management.
Brief (to candidate)
A 4-week-old has a unilateral pink-red facial patch over the forehead and upper eyelid present at birth. Parents ask if it will disappear and whether any tests are needed. You have 8 minutes to reclassify, screen for Sturge-Weber syndrome, and outline care.
[1]Candidate instructions
- Define the lesion as a port-wine stain / capillary malformation (not infantile haemangioma).
- Link GNAQ mosaicism conceptually to SWS.
- Trigger ophthalmology + neuroimaging/neurology for V1 involvement.
- Outline PDL, seizure vigilance, and realistic prognosis counselling.
- Correct the myth that the mark will involute.
Examiner checklist (mark each domain / 10)
| Domain | Key actions expected |
|---|---|
| Classification | Capillary malformation present at birth; does not involute; distinguish from haemangioma[7] |
| Genetics | Somatic mosaic GNAQ (R183Q); sporadic, not classic Mendelian[1] |
| SWS screen | V1 → ophthalmology (glaucoma) + MRI brain with contrast / neurology pathway[2][8] |
| Red flags | Seizures, buphthalmos/cloudy cornea, stroke-like episodes |
| Treatment | PDL for skin; AEDs if seizures; aspirin discussion if SWS confirmed; glaucoma therapy |
| Communication | Correct “it will go away” myth; arrange urgent eye review; offer mosaic inheritance counselling |
Model key actions
- Reclassify as PWS, not haemangioma.[7]
- Arrange urgent ophthalmology and SWS neuroimaging pathway for V1 stain.[8]
- Explain GNAQ mosaic and low sibling recurrence risk.[1]
- Offer PDL discussion with realistic lightening expectations.
Common errors
- Observing for involution as if infantile haemangioma.
- No glaucoma screen for periocular V1 lesion.
- Promising complete laser clearance in one session.
- Telling parents it is autosomal dominant with 50% transmission risk.
References4ShowHide
- [1]Shirley MD, Tang H, Gallione CJ, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. New England Journal of Medicine, 2013.PMID 23656586
- [2]Higueros E, Roe E, Granell E, et al. Sturge-Weber Syndrome: A Review. Actas dermo-sifiliograficas, 2017.PMID 28126187
- [7]Poliner A, Fernandez Faith E, Blieden L, et al. Port-wine Birthmarks: Update on Diagnosis, Risk Assessment for Sturge-Weber Syndrome, and Management. Pediatrics in Review, 2022.PMID 36045161
- [8]Sabeti S, Ball KL, Bhattacharya SK, et al. Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations. Pediatr Neurol, 2021.PMID 34153815