Histopathology of corneal leukoma and fibroma in the ACL syndrome.
Corneal tissues of four persons and a buccal fibroma from one of these persons with ACL syndrome, an autosomal dominant disorder, were evaluated clinically and microscopically. The corneal lesions appeared as a gray epithelial infiltrate over the cornea, destroying Bowman's membrane. Light and electron microscopic images of both types of lesions showed abnormal accumulation of granular mucopolysaccharide material and extensive aberrant orientation of collagen fibers. The authors postulate that the mucopolysaccharide accumulation is involved in the pathogenesis of the syndrome.
D000172:Acromegaly / Q000235:genetics*; D000328:Adult; D003315:Cornea / Q000648:ultrastructure; D003318:Corneal Opacity / Q000235:genetics / Q000473:pathology*; D005350:Fibroma / Q000473:pathology* / Q000648:ultrastructure; D006801:Humans; D008297:Male; D009061:Mouth Mucosa / Q000473:pathology; D012536:Scalp Dermatoses / Q000235:genetics*; D013577:Syndrome