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[Eye involvement in hyperimmunoglobulin E syndrome].

A Frohn1, E G Weidle, A Seelhorst

  • 1Abteilung I. Allgemeine Augenheilkunde mit Poliklinik, Universitäts-Augenklinik Tübingen.

Klinische Monatsblatter Fur Augenheilkunde
|November 1, 1990
PubMed
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Hyperimmunoglobulinemia E Syndrome (HIE) patients can develop severe corneal ulcers. This case highlights recurrent ulceration despite aggressive treatment, suggesting unique pathomechanisms.

Area of Science:

  • Ophthalmology
  • Immunology
  • Genetics

Background:

  • Hyperimmunoglobulinemia E Syndrome (HIE) is a primary immunodeficiency characterized by elevated IgE, eczema, recurrent infections, and skeletal abnormalities.
  • Ocular manifestations in HIE are common but corneal ulceration is a severe and potentially sight-threatening complication.

Observation:

  • An 8-year-old female with HIE presented with a five-year history of marginal corneal ulcers.
  • Conjunctival cultures revealed bacterial and chlamydial infections, but no herpes simplex virus.
  • Despite treatment with antibiotics, antivirals, and therapeutic contact lenses, the patient experienced spontaneous corneal perforation.

Findings:

  • Two penetrating keratoplasties were performed. The first was temporarily successful, but marginal ulceration recurred.

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  • A second keratoplasty also showed initial improvement followed by recurrent marginal ulceration.
  • While herpetic etiology was not clinically evident, the recurrent ulceration suggested pathomechanisms similar to vernal conjunctivitis.

    • Implications:

    • This case underscores the complex and challenging nature of managing corneal complications in HIE patients.
    • The recurrent ulceration, despite appropriate treatment, suggests underlying immunologic dysregulation contributing to corneal damage.
    • Further research into the specific ocular immune mechanisms in HIE is warranted to improve patient outcomes.