Hereditary mucoepithelial dysplasia.

Abstract

Abstract: : Purpose: Here we report a new case of hereditary mucoepithelial dysplasia (HMD) which is a multiepithelial disorder involving mucosae, skin, hair, eyes, and lungs. This disease is caused by an abnormality in desmosomes and gap junctions. Methods: Results: A 3 years old girl was hospitalised for a recurrent severe bilateral keratitis with decreased visual acuity initially diagnosed as herpetic keratitis. No improvement was observed under systemic acyclovir. Under general anaesthesia there was a bilateral, severe central keratitis with a hazy and vascularized cornea. The physical examination made by the dermatologist showed a non scarring alopecia, an angular cheilitis and a well–demarcated pink–red plaque covered with fine relatively inapparent small scales extending through the perineum to the superior portion of the inter gluteal cleft. Zinc blood level was normal. Her mother reports surgical extraction of a bilateral cataract in chilhood and an unilateral corneal graft after a severe keratitis. Conclusions: HMD is a rare autosomal, dominantly inherited disease with no identified gene. HMD should be considered in the differential diagnosis of childhood keratoconjunctivitis, and/or juvenile cataracts associated to multi–epithelial lesions. A complete physical examination by the dermatologist was necessary in this case for the diagnosis. The familial history of keratoconjonctivitis and cataract was also helpful. HMD is a severe disease that may led to blindness.

Keywords: cornea: epithelium • cell adhesions/cell junctions • genetics