Hidrotic ectodermal dysplasia with corneal involvement

BACKGROUND: Persons with ectodermal dysplasias classically have defects in hair, teeth, nails, and sweat glands. Other tissues derived from ectoderm may also be involved. Ocular involvement in ectodermal dysplasias primarily occurs in anhidrotic forms. METHODS: We describe a father and son with hidrotic ectodermal dysplasia. RESULTS: Both patients had recurrent corneal epithelial defects from birth, corneal neovascularization, and strabismus. The father had cataracts with crystalline and amorphous inclusions at an early age. Both patients also had alopecia and skin abnormalities. CONCLUSIONS: A father and son with a previously unreported hidrotic ectodermal dysplasia and unusual corneal findings are described.