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[Hereditary benign intraepithelial dyskeratosis]

S Dithmar1, R D Stulting, H E Grossniklaus

  • 1Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia, USA.

Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft
|November 26, 1998
PubMed
Summary

Hereditary benign intraepithelial dyskeratosis (HBID) is a rare genetic disorder causing conjunctival and oral plaques. This case highlights characteristic clinical and histological findings in an 11-year-old patient.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Dermatology

Background:

  • Hereditary benign intraepithelial dyskeratosis (HBID) is a rare autosomal dominant disorder.
  • Characterized by bilateral limbal conjunctival plaques and oral mucosa changes.
  • Features incomplete penetrance.

Observation:

  • An 11-year-old African-American patient presented with chronic conjunctivitis and limbal/oral plaques.
  • Symptoms began in early childhood and were therapy-resistant.
  • Histology revealed acanthosis, parakeratosis, hyperkeratosis, and dyskeratosis in ocular lesions.

Findings:

  • Clinical and histological findings confirmed HBID.
  • Symptoms typically manifest in early childhood with a waxing and waning course.

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  • No malignant changes have been reported in conjunctival or oral lesions.

    • Implications:

    • HBID diagnosis relies on characteristic clinical and histological features.
    • The disorder, initially described in Haliwa Indians, has been observed in unrelated individuals, suggesting new mutations.
    • Understanding HBID's presentation and progression is crucial for patient management.