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Eye involvement in inherited epidermolysis bullosa: Experience of the National Epidermolysis Bullosa Registry

  • Jo-David Fine
    Correspondence
    Inquiries to Jo-David Fine, MD, MPH, Department of Medicine (Dermatology), Vanderbilt University School of Medicine, 3900 TVC, Nashville, TN 37232-5227; (615) 322-0845; fax (615) 343-3947;
    Affiliations
    National Epidermolysis Bullosa Registry (NEBR), Lexington, Kentucky, USA (J.-D.F., L.B.J., M.W., A.S., S.C., J.D., D.T.D.)

    Department of Medicine (Dermatology), University of Kentucky College of Medicine, Lexington, Kentucky, USA (J.-D.F.)

    Department of Epidemiology (J.-D.F.), University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
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  • Lorraine B. Johnson
    Affiliations
    National Epidermolysis Bullosa Registry (NEBR), Lexington, Kentucky, USA (J.-D.F., L.B.J., M.W., A.S., S.C., J.D., D.T.D.)

    Department of Public Health Nursing (L.B.J.), University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA

    Department of Dermatology (L.B.J., M.W., A.S., S.C., J.D), University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
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  • Madeline Weiner
    Affiliations
    National Epidermolysis Bullosa Registry (NEBR), Lexington, Kentucky, USA (J.-D.F., L.B.J., M.W., A.S., S.C., J.D., D.T.D.)

    Department of Dermatology (L.B.J., M.W., A.S., S.C., J.D), University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
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  • Amy Stein
    Affiliations
    National Epidermolysis Bullosa Registry (NEBR), Lexington, Kentucky, USA (J.-D.F., L.B.J., M.W., A.S., S.C., J.D., D.T.D.)

    Department of Dermatology (L.B.J., M.W., A.S., S.C., J.D), University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
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  • Sarah Cash
    Affiliations
    National Epidermolysis Bullosa Registry (NEBR), Lexington, Kentucky, USA (J.-D.F., L.B.J., M.W., A.S., S.C., J.D., D.T.D.)

    Department of Dermatology (L.B.J., M.W., A.S., S.C., J.D), University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
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  • Joy Deleoz
    Affiliations
    National Epidermolysis Bullosa Registry (NEBR), Lexington, Kentucky, USA (J.-D.F., L.B.J., M.W., A.S., S.C., J.D., D.T.D.)

    Department of Dermatology (L.B.J., M.W., A.S., S.C., J.D), University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
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  • David T. Devries
    Affiliations
    National Epidermolysis Bullosa Registry (NEBR), Lexington, Kentucky, USA (J.-D.F., L.B.J., M.W., A.S., S.C., J.D., D.T.D.)
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  • Chirayath Suchindran
    Affiliations
    Department of Biostatistics (C.S.), University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
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      Abstract

      Purpose

      To determine the frequency of ocular manifestations in inherited epidermolysis bullosa (EB) within the continental United States and to define the estimated cumulative risks of developing nonscarring (blisters or erosions) and scarring corneal manifestations within each major EB subtype over time.

      Design

      Observational (cross-sectional and longitudinal).

      Methods

      Up to 16 years of longitudinal follow-up was conducted on 3,280 consecutively enrolled patients in the National EB Registry, an epidemiologic study funded by the National Institutes of Health. Data were stratified by major EB type and subtype. Frequencies of occurrence were determined for eight variables (corneal erosions or blistering; corneal scarring; symblepharons; blepharitis; ectropions; lacrimal duct obstruction; impaired vision; blindness) by contingency tables, and cumulative risks were generated by life table analysis technique.

      Results

      The most common ocular manifestations were corneal erosions and blisters. Frequencies mirrored relative severity of skin disease, with 74.10% of all patients with recessive dystrophic EB, Hallopeau-Siemens (RDEB-HS) and 47.50% of all patients with junctional EB, Herlitz (JEB-H) experiencing at least one episode. Lower frequencies were noted for corneal scarring. Symblepharons and ectropions were most commonly seen in inversa RDEB and JEB-H, respectively. Blindness was reported in 6.47% of RDEB-HS patients. The cumulative risks of nonscarring and scarring corneal lesions in JEB-H at age 5 are 83.18% and 27.08% and at age 25 are 83.18% and 72.22%. With time, the cumulative risk of each in RDEB-HS approached that reported in JEB-H patients.

      Conclusion

      Ocular disease activity, particularly corneal, is common in some EB subtypes. Careful ophthalmologic examination should become an integral part of the management of all patients with inherited EB.
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