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Related Experiment Videos

Corneal involvement in epidermolysis bullosa simplex

H Granek, H P Baden

    Archives of Ophthalmology (Chicago, Ill. : 1960)
    |March 1, 1980
    PubMed
    Summary

    This study reports the first cases of corneal involvement in epidermolysis bullosa simplex, a genetic blistering skin disorder. Ocular complications are now documented across all major epidermolysis bullosa types.

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    Area of Science:

    • Ophthalmology
    • Genetics
    • Dermatology

    Background:

    • Epidermolysis bullosa (EB) is a group of rare genetic disorders characterized by fragile skin that blisters and tears easily.
    • Ocular involvement has been previously reported in major types of EB, including junctional, dystrophic, and Kindler syndrome.
    • Epidermolysis bullosa simplex (EBS) is the most common form of EB, typically affecting only the skin.

    Observation:

    • The first documented cases of ocular (corneal) involvement in epidermolysis bullosa simplex are presented in a 17-year-old male and his mother.
    • Both patients exhibited bilateral, ring-like bullous lesions in the mid-peripheral cornea, specifically affecting the deep corneal epithelium superficial to Bowman's membrane.
    • The son experienced symptomatic corneal blistering with bullae rupturing onto the corneal surface.

    Findings:

    • Genetic analysis and electron microscopy confirmed the diagnosis of dominantly inherited epidermolysis bullosa simplex.
    • The family history revealed non-scarring blistering across three generations, supporting a dominant inheritance pattern.
    • This observation expands the known clinical spectrum of epidermolysis bullosa simplex to include ocular manifestations.

    Implications:

    • The findings indicate that ocular complications can occur in epidermolysis bullosa simplex, a previously less recognized association.
    • This broadens the understanding of epidermolysis bullosa, confirming that ocular involvement is now documented in all major types of the disorder.
    • Early recognition and management of corneal complications in EBS patients are crucial for preventing vision impairment.

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