2020–2021 BCSC Basic and Clinical Science Course™
8 External Disease and Cornea
Chapter 8: Systemic Disorders With Corneal and Other Anterior Segment Manifestations
Ectodermal dysplasia is a heterogeneous group of conditions characterized by the following:
presence of abnormalities at birth
diffuse involvement of the epidermis plus at least 1 of its appendages (hair, nails, teeth, sweat glands)
various inheritance patterns
Ectodermal dysplasia is a rare hereditary condition that displays variable defects in the morphogenesis of ectodermal structures, including hair, skin, nails, and teeth. It is a component of at least 150 distinct hereditary syndromes.
Many ocular abnormalities have been described in the ectodermal dysplasias, including sparse eyelashes and eyebrows, blepharitis, ankyloblepharon, hypoplastic lacrimal ducts, diminished tear production, abnormal meibomian glands, dry conjunctivae, pterygia, corneal scarring and neovascularization, cataract, and glaucoma. The ocular surface changes may be due to limbal stem cell deficiency. Although the dermatologic manifestations are nonprogressive, the corneal conditions can worsen with time.
The ocular surface changes and blepharitis can be managed with tear replacement and preservation, together with eyelid hygiene. Keratolimbal autograft transplantation in combination with PK can be performed.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.