Hypohidrotic ectodermal dysplasia: a case report

ABSTRACT

Hypohidrotic ectodermal dysplasia is a common variation of ectodermal dysplasia, characterized by hypohidrosis (or anhidrosis), hypotrichosis, hypodontia, and other distinct facial features. Furthermore, ocular tissues of ectodermal origin may also be affected in this disease. The most common ocular manifestations of hypohidrotic ectodermal dysplasia are dry eye, madarosis, alterations in the meibomian glands, abnormalities in the nasolacrimal duct, and infantile glaucoma. Herein, author reports a case of hypohidrotic ectodermal dysplasia in a 12-year-old Indian boy with dry eye and lacrimal sac mucocele.

KEYWORDS:

• Christ-Siemens-Touraine syndrome
• Clouston syndrome
• ectodermal dysplasia
• hypohidrotic ectodermal dysplasia
• lacrimal sac mucocele

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the article.