Connective tissue changes associated with inferior epiblepharon, epicanthus, and keratoconus.
A 34-year-old woman with bilateral inferior epiblepharon, epicanthus, and keratoconus is presented. Biopsies of right upper arm skin, left lower eyelid, and left cornea were sectioned and examined by electron and indirect immunofluorescent microscopy. Pathologic changes in both the skin and cornea were observed. Indirect immunofluorescent techniques showed an increase in fibronectin and procollagen type I in the subcutaneous tissue of the skin and an increase of procollagen type I in the deep dermis of the right upper arm skin and left lower eyelid. Increased amounts of laminin in the basal epithelium of the cornea and of collagen type III in the stroma and subepithelial components of the stroma were observed. Electron microscopy disclosed disordered arrays of collagen fibers in the right upper arm skin and left lower eyelid, and typical changes of keratoconus, with scars in the cornea. Both the cornea and skin had thin fibrillar extensions between collagen fibers.
D000328:Adult; D001706:Biopsy; D003094:Collagen / Q000032:analysis; D003238:Connective Tissue / Q000473:pathology*; D003315:Cornea / Q000473:pathology*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005353:Fibronectins / Q000032:analysis; D005455:Fluorescent Antibody Technique; D006801:Humans; D007640:Keratoconus / Q000473:pathology*; D007797:Laminin / Q000032:analysis; D011347:Procollagen / Q000032:analysis; D012867:Skin / Q000473:pathology*
D005353:Fibronectins; D007797:Laminin; D011347:Procollagen; D003094:Collagen