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Nouvelle thérapie pour kératite dans le cadre de syndrome KID

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. KID syndrome is caused by a mutation in gap junction protein beta 2 (GJB2) gene on chromosome 13q11-12 that encodes for a protein connexin 26. Connexin 26 plays a role in epithelial growth, differentiation and stability. A mutation in GJB6 gene has been described more rarely encoding for connexin 30. These mutations cause vascularising keratitis due to severe limbal insufficiency. An ocular involvment is noted in 95% of cases of KID syndrome. The aim of this study is to describe an additional case of KID syndrome and to describe a novel therapy option.

We present a new case of KID syndrome. No family members exhibited similar findings. The patient was treated with topical matrix regeneration therapy (RGTA) for severe corneal ulceration.

The patient was a 16-year-old deaf boy with typical skin lesions.  He  underwent a complete ocular examination and a complete systemic evaluation. Ophthalmic  examination showed corneal ulceration with severe neovascularisation in the right eye and corneal opacification with superficial punctate keratitis in the left eye. The eyes were treated with topical bevacizumab, ciclosporin and artificial tears. In addition, topical matrix regeneration therapy was added in the right eye. Under the therapy the pain and photophobia in his right eye rapidly decreased.

We report a new case of KID syndrome. To our knowledge no other patient has been treated with topical matrix regeneration therapy. Until now the clinical results are promising and the tratment is safe.

We report presumably the first results of KID syndrome under topical matrix regeneration therapy.