A Case of Ocular Manifestation of Anhidrotic Ectodermal Dysplasia.

Lee, Myung Won; Lee, Dong Cho; Chang, Moo Hwan

Case Report

Journal of the Korean Ophthalmological Society 2007;48(7):980-984.
Published online July 31, 2007.

A Case of Ocular Manifestation of Anhidrotic Ectodermal Dysplasia.

Myung Won Lee, Dong Cho Lee, Moo Hwan Chang

Department of Ophthalmology, Dankook University College of Medicine, Cheonan, Korea. cataract@empal.com

무한성 외배엽 이형성증 환자의 안과적 소견

이명원,이동초,장무환

Department of Ophthalmology, Dankook University College of Medicine, Cheonan, Korea

Correspondence: 이동초

Abstract

PURPOSE
This clinical report describes the characteristics and ophthalmic treatment of a patient with anhidrotic ectodermal dysplasia showing bilateral upper eyelid entropion, conjunctival mass and dry eye syndrome. METHODS: A 12-year-old boy presented to our clinic complaining of a white mass on the lower tarsal conjunctiva, foreign body sensation, and an itching in his right eye of one-year duration. He had developmental defects in his hair, teeth, nails and sweat glands. He had dry skin, a flat upper-lip, heat intolerance, a saddle-backed nose, and hypohidrosis. Ophthalmic examination showed blepharitis, a conjunctival mass, and bilateral upper eyelid entropion. RESULTS: Upper eyelid entropion surgery was performed. An excisional biopsy of the conjunctival mass showed nonspecific acute and chronic inflammation. CONCLUSIONS: We concluded that the conjunctival mass developed as a result of chronic inflammation caused by chronic conjunctivitis and dry eye syndrome. Regular lid-hygiene with swab and lubrication is useful to minimize recurrent ocular inflammation in anhidrotic ectodermal dysplasia.

Key Words: Anhidrotic ectodermal dysplasia;Dry eye syndrome;Entropion