elastin and Eyelid-Diseases

Sleep apnea syndrome (SAS) is a disease characterized by recurrent complete or partial upper airway obstructions during sleep. The majority of patients with SAS demonstrate this obstruction either at the nasopharynx or the oropharynx. Risk factors for SAS include obesity, male gender, upper airway abnormalities, alcohol use, snoring, and neck girth of more than 17 in. in men or 16 in. in women. Reported ophthalmic findings in patients with SAS include floppy eyelid syndrome (FES), glaucoma, and non-arteritic anterior ischemic optic neuropathy (NAION).

Topics: Anti-Bacterial Agents; Continuous Positive Airway Pressure; Elastin; Erythromycin; Eye; Eyelid Diseases; Glaucoma; Humans; Marfan Syndrome; Optic Nerve; Optic Neuropathy, Ischemic; Sleep Apnea, Obstructive

To investigate histopathologic alterations of eyelid biopsy specimens from patients with floppy eyelid syndrome (FES) with special regard to elastic fiber content and ultrastructure as well as to the expression of elastin-degrading enzymes to elucidate the pathogenesis of this disorder.. Retrospective, interventional case series.. Eleven consecutive patients with FES and 10 age-matched control patients with basal cell carcinoma of the eyelid.. Horizontal pentagonal eyelid resections of 16 upper lids were performed in 11 patients with FES. Full-thickness eyelid biopsy specimens from study and control patients were examined by light and transmission electron microscopy, semiquantitative morphometry, and immunohistochemistry using antibodies against matrix metalloproteinase (MMP)-2, MMP-7, MMP-9, and MMP-12 and neutrophil elastase.. All patients treated with surgical horizontal eyelid shortening were asymptomatic at follow-up. Histopathologic analysis of the surgical specimens showed, apart from unspecific signs of chronic inflammation, a significant decrease in the amount of elastin within the tarsal plate and eyelid skin as compared with controls. Residual elastic fibers revealed an abnormal ultrastructure with a diminished elastin core. Immunohistochemistry demonstrated an increased immunoreactivity for elastolytic proteases, particularly MMP-7 and MMP-9, in areas of elastin depletion in FES specimens as compared with controls.. The findings indicate that upregulation of elastolytic enzymes, most probably induced by repeated mechanical stress, participates in elastic fiber degradation and subsequent tarsal laxity and eyelash ptosis in FES.

Topics: Aged; Biopsy; Carcinoma, Basal Cell; Elastic Tissue; Elastin; Eyelid Diseases; Eyelid Neoplasms; Female; Humans; Immunoenzyme Techniques; Male; Matrix Metalloproteinase 12; Matrix Metalloproteinase 2; Matrix Metalloproteinase 7; Matrix Metalloproteinase 9; Matrix Metalloproteinases; Metalloendopeptidases; Middle Aged; Retrospective Studies; Syndrome

Blepharochalasis is a rare condition characterized by recurrent episodes of eyelid edema lead to an atrophic eyelid skin with fine wrinkles and peculiar bronze discoloration. A 32-year-old female presented with loose and redundant skin of the bilateral eyelids. We diagnosed her disease as blepharochalasis by clinical features and by disappearance of elastic fibers from the dermis in the biopsied specimen. Because elastic fibers diminish in the late phase of blepharochalasis, we performed RT-PCR to analyze the mRNA expression of elastin, a major component of elastic fiber. Elastin mRNA expression in the patient's cultured fibroblasts had not decreased compared with that in the control fibroblasts. This result suggests that environmental factors or other matrix components of elastic fibers may be involved in the loss of elastic fiber.

Topics: Adult; Atrophy; Diagnosis, Differential; Edema; Elastin; Eyelid Diseases; Female; Fibroblasts; Gene Expression; Humans; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger

Patients with the floppy eyelid syndrome have chronic papillary conjunctivitis with easily everted upper eyelids and a soft, pliant upper tarsus. The purpose of this study is to describe the clinical features and the histopathologic correlate in a group of patients with floppy eyelid syndrome.. The authors examined eight patients with floppy eyelid syndrome, four of whom underwent surgical management with horizontal eyelid shortening. Eyelid tissue from these patients was examined using light microscopy, electron microscopy, and immunohistochemistry and compared with controls with unrelated eyelid or orbital disorders.. Clinical findings included obesity or eye rubbing, lash ptosis, and, less commonly, blepharoptosis. Two patients had documented sleep apnea with abnormal sleep electroencephalogram. Light microscopy of the surgical specimens showed chronic conjunctival inflammation, papillary conjunctivitis, and meibomian gland abnormalities, including granuloma formation. Verhoeff's modified elastin stain demonstrated a marked decrease in the amount of elastin fibers in tarsus from patients with floppy eyelid syndrome compared with controls. Immunohistochemical staining for elastin also showed a marked decrease of tarsal elastin in floppy eyelid patients compared with controls. In contrast, immunohistochemical stains showed that the distribution of collagen types I and III was similar between patients with floppy eyelid syndrome and controls. Electron microscopy demonstrated that tarsal collagen was comparable in patients and controls, and that there was a reduced amount of tarsal elastin in floppy eyelid syndrome compared with controls.. These findings demonstrate that tarsal elastin is decreased in the floppy eyelid syndrome, which may contribute to the laxity of the tarsus in this disorder.

Topics: Adult; Aged; Collagen; Conjunctivitis, Allergic; Elastin; Eyelid Diseases; Eyelids; Female; Fluorescent Antibody Technique; Granuloma; Humans; Male; Meibomian Glands; Middle Aged; Syndrome