Corneal Findings in Kabuki's Syndrome

Abstract

Purpose:: To document previously undescribed and possibly related corneal and dermatologic changes associated with Kabuki's Syndrome.

Methods:: Observational case report.

Results:: A 9-year-old Caucasian male with Kabuki's Syndrome presented for a second opinion regarding progressive vision threatening corneal lesions OU. Slit-lamp exam of the right eye revealed an inferior wedge-shaped corneal scar with associated pannus extending from the 4:30-7:00 limbal position with apexing central 3 mm extension. The left cornea revealed more extensive inferior pannus and scar formation in a similar position, but with visual axis encroachment and a focally elevated deposit consistent with Salzmann’s nodular degeneration. The appearance, location and configuration of the above corneal lesions coupled with mild anterior blepharitis were considered consistent with moderately advanced phylectenular keratoconjunctivitis. External exam revealed erythematous scaling facial and eyelid skin changes diagnosed by dermatology as keratosis pilaris.

Conclusions:: Kabuki’s (Make-up) Syndrome is a multiple congenital anomalies/mental retardation syndrome so named because of the facial features of affected patients which resemble the "make-up" appearance of actors in Kabuki, a traditional Japanese play. Previously described corneal findings include microcornea, megalocornea, and Peter’s anomaly, while skin changes are predominantly dermatoglyphic. Increased infection risk, possibly from associated immunologic dysfunction, is also well documented. This report for the first time documents the association of both phylectenular keratoconjunctivitis and keratosis pilaris with Kabuki's Syndrome. We postulate a linkage between the corneal and dermatologic findings whereby the skin abnormalities coupled with immunologic dysfunction and increased infection risk result in increased bacterial skin loads, with subsequent and potentially significant phlyctenular type corneal changes. Understanding this relationship allows enhanced diagnostic accuracy of phylectenular keratoconjunctivitis with early and relatively simple (lid hygiene with antibiotics) vision saving therapeutic intervention.

Keywords: cornea: clinical science • genetics • inflammation