Goldscheider syndrome (weber-cockayne syndrome; epidermolysis bullosa; dominant epidermolysis bullosa dystrophiea albopapuloidea)

General: Rare; Weber-Cockayne syndrome, inherited as an autosomal dominant trait, is actually a milder form without scar formation, whereas Goldscheider syndrome, inherited either autosomal dominant or recessive, shows dystrophic changes with scarring; consanguinity frequent.

Ocular: Blepharitis; shrinkage of conjunctiva; pseudomembrane formation with symblepharon; conjunctivitis; bullous keratitis and subepithelial blisters lead to erosions with subsequent ulcerations and corneal opacities or even perforation; sclera may be similarly involved; lagophthalmos, cicatricial lacrimal stenosis; retinal detachment; cataract; pannus.

Clinical: Vesicular and bullous skin lesions and similar lesions of mucous membranes occur spontaneously or after mild trauma; keloid scars and contraction after healing are common in the dystrophic forms, whereas in the mild form the lesions heal without scarring but may leave some skin pigmentation; growth and mental retardation may be present in the group with recessive inheritance; stenosis of the larynx due to scarring may occur.

Adamis AP, et al. Anterior corneal disease of epidermolysis bullosa simplex. Arch Ophthalmol 1993; 111:499-502.

Aurora AL, et al. Ocular changes in epidermolysis bullosa letalis. Am J Ophthalmol

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.

Iwamoto M, et al. The ultrastructural defect in conjunctiva from a case of recessive dystrophic epidermolysis bullosa. Arch Ophthalmol 1991; 109:1382-l386.

Venugopal NS, Sam-Raj D. Ocular manifestations in bullous dermatoses. Ind J Ophthalmol 1977; 25:13-l7.