Keratoconus in hypohidrotic ectodermal dysplasia

Abstract

The hypohidrotic ectodermal dysplasia (HED) is a rare genetic disease characterized by the absence or deficiency function of the ectodermal derivatives. Ocular involvement includes dry eyes, cataract, blefaritis, and alterations of meibomian glands. However, keratoconus has not been included as a manifestation in the literature. We report the case of a 17-year-old male who presented HED and keratoconus, an ocular manifestation seldomly related to this syndrome. The patient was submitted to a contact lens fitting, and the final visual acuity was 0.1 logMAR in both eyes. Therefore, to the best of our knowledge, our patient can be considered the fourth patient diagnosed with keratoconus and HED simultaneously worldwide. The uniqueness and rarity of this syndrome associated with keratoconus, as well as the satisfactory contact lens fitting, motivated this case report, which can provide useful information and alert to this possible etiological association.

Keywords

• contact lens
• hypohidrotic ectodermal dysplasia
• keratoconus