CASE HISTORY – September 2018

Novel treatment in keratitisichtyosis-deafness (KID) syndrome – a case report

Authors: Laura Mauring, Dominique Brémond-Gignac

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Abstract

The KID syndrome is a rare congenital ectodermal dysplasia consisting of keratitis, ichtyosis and deafness. Up to now less than 100 cases have been described worldwide with an incidence of less than 1 in 1 000 000. The KID syndrome is caused by a mutation in the gap junction protein beta 2 (GJB2) gene on chromosome 13q11-12 that encodes for the protein connexin 26. Connexin 26 plays a role in epithelial growth, differentiation and stability. A mutation in the GJB6 gene has been described more rarely encoding for connexin 30. These mutations cause vascularising keratitis due to severe limbal insufficiency. Ocular involvement occurs in 95% of cases of the KID syndrome.

We present a new case of the KID syndrome. No family members exhibited similar findings. The patient was treated with topical matrix regeneration therapy (RGTA) for severe corneal ulceration with good outcome and the treatment can be considered safe.