Infantile bilateral glaucoma in a child with ectodermal dysplasia

Abstract

Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.

KEYWORDS::

• Hypohidrotic ectodermal dysplasia
• Infantile glaucoma
• Hypodontia

ACKNOWLEDGMENTS

The author wishes to acknowledge the help of Dr Flavio Faletra from the Department of Molecular Genetics of the University of Trieste in providing genotype information.

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