Ocular Features in Ectrodactyly–ectodermal Dysplasia Sans–clefting Syndrome: A Rare Case Report
Ectrodactyly–ectodermal dysplasia–clefting syndrome is a rare autosomal dominant disorder with variable expression and penetrance and involves both ectodermal and mesodermal tissues. Here, we report the case of a 28-year-old female presenting with bilateral severe dry eye and features suggestive of ectrodactyly and hypohidrotic ectodermal dysplasia. She had lobster claw deformities, severe dry skin, and ocular features such as madarosis, ankyloblepharon, conjunctival xerosis, and corneal scarring. A combined effort involving ophthalmologist, dermatologist, and dentist is required to successfully manage these patients.
Institutions
- NKP Salve Institute of Medical Sciences and Lata Mangeshkar Hospital (IN)
Publication Details
- Journal
- Delhi Journal of Ophthalmology
- Published
- 2025-10-01
- DOI
- https://doi.org/10.4103/dljo.dljo_112_24
- Primary Topic
- Cancer-related Molecular Pathways
- Type
- article
- Field-Weighted Citation Impact
- 0.00