Ectodermal Dysplasia: Association with Anti-Basement Membrane Autoantibodies

ABSTRACT

Ectodermal dysplasia (ED) is a group of several genetic conditions with absence or dysgenesis of at least two ectodermal derivatives: teeth, skin and its appendages including hair, nails, eccrine and sebaceous glands. The most important clinical findings in patients with ED are hypodontia, hypotrichosis, and hypohidrosis, which can lead to episodes of hyperthermia. Few reports have focused on the progressive keratopathy in ED. Cicatrizing conjunctivitis associated with anti-basement membrane autoantibodies has been described. We report a series of three ectodermal dysplasia patients with an ocular phenotype typically seen in ocular mucous membrane pemphigoid; conjunctival immunohistopathology revealed anti-basement membrane autoantibodies in all of them, and systemic immunosuppression proved to be effective in improving symptoms and helping to stabilize ocular surface disease.

Keywords:

• cicatrizing conjunctivitis
• ectodermal dysplasia
• genetic disorder
• ocular cicatricial pemphigoid
• ocular mucous membrane pemphigoid
• ocular surface

Declaration of interest

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