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.

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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
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article

Ocular Features in Ectrodactyly–ectodermal Dysplasia Sans–clefting Syndrome: A Rare Case Report

Delhi Journal of Ophthalmology
Cancer-related Molecular Pathways
article

Ocular Features in Ectrodactyly–ectodermal Dysplasia Sans–clefting Syndrome: A Rare Case Report

article en

Abstract

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.

Delhi Journal of OphthalmologyVol. 35(4)
NKP Salve Institute of Medical Sciences and Lata Mangeshkar Hospital (IN)
Openalex Percentile: Top 34%
Cancer-related Molecular Pathways
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Ocular Features in Ectrodactyly–ectodermal Dysplasia Sans–clefting Syndrome: A Rare Case Report · Delhi Journal of Ophthalmology (2025) | TGRS Research Map | TGRS