title: Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature.
abstract: Xeroderma pigmentosum is a rare, autosomal recessive disease caused by a defect in DNA repair. Patients with xeroderma pigmentosum often have cutaneous and ocular sun sensitivity, freckle-like skin pigmentation, multiple skin and eye cancers, and, in some patients, progressive neurodegeneration. Xeroderma pigmentosum predominantly affects the ultraviolet (UV) exposed ocular surface, resulting in eyelid atrophy and cancers, corneal dryness, exposure keratopathy, and conjunctival tumors. We report the clinical history and ocular pathology of two white women who had xeroderma pigmentosum with neurological degeneration: Case 1 (died at age 44 years) and Case 2 (died at age 45 years). Case 1, with mutations in the XPA gene, had more than 180 basal cell carcinomas of her skin and eyelids and died from complications of neurodegeneration. Case 2, with mutations in the XPD gene, was sun-protected and had three skin cancers. She died from complications of neurodegeneration and pneumonia. Both patients had bilateral pinguecula, corneal pannus, and exposure keratopathy. Case 1 had bilateral optic atrophy, and Case 2 had bilateral peripheral retinal pigmentary degeneration. Both patients developed retinal gliosis. The ophthalmic manifestations and pathology of xeroderma pigmentosum are discussed and reviewed with respect to this report and other cases in the literature. These cases illustrate the role of DNA repair in protection of the eyes from UV damage and neurodegeneration of the retina.
authors.affiliation: Immunopathology Section, Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Hema L
authors.initials: HL
authors.lastname: Ramkumar
authors.forename: Brian P
authors.initials: BP
authors.lastname: Brooks
authors.forename: Xiaoguang
authors.initials: X
authors.lastname: Cao
authors.forename: Deborah
authors.initials: D
authors.lastname: Tamura
authors.forename: John J
authors.initials: JJ
authors.lastname: Digiovanna
authors.forename: Kenneth H
authors.initials: KH
authors.lastname: Kraemer
authors.forename: Chi-Chao
authors.initials: CC
authors.lastname: Chan
mesh_terms: D000328:Adult; D002924:Ciliary Body / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006222:Hamartoma / Q000473:pathology*; D006801:Humans; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000473:pathology; D019636:Neurodegenerative Diseases / Q000235:genetics / Q000473:pathology; D012162:Retinal Degeneration / Q000235:genetics / Q000473:pathology*; D012878:Skin Neoplasms / Q000473:pathology; D014603:Uveal Diseases / Q000473:pathology*; D014983:Xeroderma Pigmentosum / Q000235:genetics / Q000473:pathology*; D051760:Xeroderma Pigmentosum Group A Protein / Q000235:genetics; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics
chemical_list: D051760:Xeroderma Pigmentosum Group A Protein; D051759:Xeroderma Pigmentosum Group D Protein