Corneal involvement in xeroderma pigmentosum;a histopathologic report.

Area of Science:

• Ophthalmology
• Genetics
• Dermatology

Background:

• Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by defective DNA repair, leading to extreme photosensitivity and a high risk of skin cancer.
• Ocular manifestations are common in XP, often involving the cornea, conjunctiva, and eyelids, significantly impacting visual function.

Observation:

• A 19-year-old male patient with a diagnosis of XP presented with bilateral corneal leukoma and reduced visual acuity, more pronounced in the right eye.
• The patient underwent penetrating keratoplasty for severe corneal opacity, vascularization, and lipid deposition in the right eye.

Findings:

• Histopathologic examination of the corneal button revealed chronic interstitial lipogranulomatous keratitis.
• This represents a specific and detailed histopathologic finding of corneal disease in XP.

Implications:

• This case highlights the importance of recognizing and managing ocular complications in XP patients.
• Understanding the histopathologic features of corneal involvement in XP can aid in diagnosis and potentially guide future therapeutic strategies.
• This report contributes valuable data on XP-related ocular pathology from Iran, a region with limited previous documentation.