Severe Phenotype of Keratitis–Ichthyosis–Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia. Issue 2 (February 2018)

• Record Type: Journal Article
• Authors: Serrano-Ahumada, Ana Silvia; Cortes-González, Vianney; González-Huerta, Luz María; Cuevas, Sergio; Aguilar-Lozano, Luis; Villanueva-Mendoza, Cristina
• Is Part Of: Cornea. Volume 37:Issue 2(2018)
• Publication Date: 2018-02
• Subjects: KID syndrome -- ocular surface squamous neoplasia -- GJB2; Cornea -- Periodicals; Cornea -- Periodicals; Cornée -- Périodiques; 617.719
• DOI: 10.1097/ICO.0000000000001387
• Languages: English
• ISSNs: 0277-3740

Abstract

Abstract : Purpose: The aim of this study was to describe a case of severe keratitis–ichthyosis–deafness (KID) syndrome with ocular surface squamous neoplasia. Methods: The affected patient underwent complete ocular and systemic examinations. The molecular studies included polymerase chain reaction amplification and automated DNA sequencing of the complete gap junction beta-2 ( GJB2 ) gene coding sequence. Results: A 30-year-old man presented with generalized erythro-hyperkeratosis and deafness and complaints of decreased visual acuity, tearing, and photophobia. Ophthalmic examination showed corneal erosion, vascularization, and a gray gelatinous lesion partially covering the right cornea, suggestive of squamous neoplasia. The clinical features were characteristic of KID syndrome. This diagnosis was confirmed with a DNA analysis showing the pathogenic variant p.D50N in the GJB2 gene. Presumed squamous neoplasia was treated with topical interferon α2b. Conclusions: KID syndrome is a very rare disease that has been reported with an incremental incidence of squamous cell carcinoma of the mucous membranes and skin (12%–15%). Here, we presented a case of severe systemic KID syndrome with ocular surface squamous neoplasia.