CHRONIC KERATOCONJUNCTIVITIS ASSOCIATED WITH CONGENITAL DYSKERATOSIS AND ERYTHROKERATODERMIA VARIABLIS - 2 RARE GENODERMATOSES

Objective: The purpose of the study was to report the ocular manifesta tions and immunohistopathologic description of two rare forms of genod ermatosis: congenital dyskeratosis (CD) and erythrokeratodermia variab ilis (EKV), Design: Case reports, Participants: Two patients with CD a nd EKV presenting with chronic keratoconjunctivitis were studied. Inte rvention: Clinical photography to show ocular manifestations and derma tologic findings was performed. Conjunctival biopsy was performed to d etermine the histopathology and immunohistopathology. Results: In the patient with EKV, the eyelid skin was dry, erythematous, and thickened . The lid margins showed plugging of some of the Meibomian glands, mad arosis, and occasional trichiasis, The epibulbar conjunctiva was injec ted and had a moderate papillary reaction. Both corneas had pronounced vascularization and stromal scarring. Conjunctival biopsy results dis closed a striking number of degranulating mast cells and moderate numb ers of plasma cells. Immunohistopathology showed pronounced immunoglob ulin G (IgG)-positive cells in the stroma and immunoglobulin A (IgA) p ositivity in the epithelium. There was scattered immunoglobulin M (IgM ) and moderate C3 and C4 positivity in the stroma, In CD, the patient had keratinized lid margins, entropion formation, trichiasis, cicatriz ing conjunctivitis, and symblephra formation. The corneal surface was keratinized, with deep and superficial vascularization. Conjunctival b iopsy specimens showed pronounced epithelial keratinization and squamo us metaplasia. Degranulating mast cells and eosinophils were prominent in the stroma. Immunohistopathology showed C4 and immunoglobulin D po sitivity on the keratinized epithelial surface with rare foci of immun oglobulin E-positive cells. Basal epithelial cells were positive for I gA and IgG, and a large number of IgA and IgG plasma cells were presen t in the substantia propria. Conclusion: To the authors' knowledge, th ese case reports represent the first clinical description of the ocula r manifestation of EKV and the first immunohistopathologic description of the affected conjunctiva in EKV and CD, both of which should be co nsidered in the differential diagnosis of genodermatosis associated wi th chronic keratoconjunctivitis.