Derm Cases · Dermatology / Paediatrics / Genetics / Dentistry
OSCE — Hypohidrotic ectodermal dysplasia: triad, heat risk, genetics
Eight-minute OSCE on recognising HED triad, X-linked EDA pathway, hyperthermia prevention, and dental/genetic MDT care.
On this page
Study tools
Target exams
NEET-PGINICETPLABMRCPFRCDerm
Prompt
Eight-minute OSCE on recognising HED triad, X-linked EDA pathway, hyperthermia prevention, and dental/genetic MDT care.
Brief (to candidate)
Parents bring a toddler with sparse hair, few conical teeth, and recurrent hot-weather fevers. Maternal uncle wore dentures young. Diagnose, protect from heat, and plan MDT care in 8 minutes.
Examiner checklist
| Domain | Expected |
|---|---|
| Diagnosis | HED triad named |
| Genetics | EDA X-linked pathway; examine/counsel mother as possible carrier |
| Safety | Heat avoidance / cooling plan prioritised |
| Dental | Early dental referral and prosthetic pathway |
| Differential | Contrast Clouston (sweats normally) |
| Communication | Clear, non-stigmatising explanation of lifelong but manageable condition |
Common errors
- Missing hyperthermia risk
- Calling it alopecia areata only
- No dental plan
- Telling parents sweating will normalise spontaneously
References4ShowHide
- [1]Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, et al. Hypohidrotic ectodermal dysplasia: clinical and molecular review. International Journal of Dermatology, 2018.PMID 29855039
- [2]Wright JT, Grange DK, Fete M Hypohidrotic Ectodermal Dysplasia. GeneReviews, 1993.PMID 20301291
- [8]Schnabl D, Grunert I, Schmuth M, et al. Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review. Journal of Oral Rehabilitation, 2018.PMID 29679503
- [9]Clarke A, Burn J. Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia. Journal of Medical Genetics, 1991.PMID 1865470