Ocular changes in a case of Kyrle's disease. 20-year follow-up.

PURPOSE: To re-evaluate a case of Kyrle's disease with conjunctival and corneal changes in a 52-year-old patient with onset at the age of 5 years.

METHODS: Repeated biopsies from the skin, conjunctiva and oral mucosa along with a corneal button obtained from a right eye keratoplasty were examined histopathologically.

RESULTS: The skin, oral, conjunctival and corneal histopathology showed parakeratosis, dyskeratotic cells and single cell keratinization. The clinical picture and the histopathological findings are consistent with the diagnosis of Kyrle's disease.

CONCLUSIONS: This is the first reported case of Kyrle's disease with conjunctival changes. We suggest that Kyrle's disease, although predominantly affecting young adults, may also be seen in childhood. The disease may be a genodermatosis. It is not confined only to the skin, but can be seen in mucous membranes like the conjunctiva and buccal mucosa, and in tissues having the same embryological origin as the skin, i.e. the cornea.