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 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 Caucasian women who had xeroderma pigmentosum with neurological degeneration: Case 1, who died at age 44 and Case 2, who died at age 45. 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 3 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, while 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.

Clinicopathological Features of Ophthalmic Neoplasms Arising in the Setting of Xeroderma Pigmentosum

“…Our findings are similar to those reported in the literature: there is an increased risk present in this population for the early development of cutaneous tumors before the age of 20, and the mean age seen in our patients was 20.8 years [3,10,16,17]. The clinical presentation varies according to the extent of tissue damage, including impaired visual acuity, photophobia, and subsequent corneal opacity [3,15,17]. In our population, severe photophobia was present in 4 out of 6 patients studied.…”

“…Previous reports described SCC of the eye/orbit as an invasive tumor that may spread into the brain [6,17]. Periocular tumors can also arise in the setting of XP, and 1 patient in our study presented with recurrent orbital melanoma and BCC of the eyelid [3,10,17,18,19]. Interestingly, less common cutaneous neoplasia such as AFX has also been reported in the facial skin and lower lip in patients with XP, as well as 1 case affecting the conjunctiva in an African American 5-year-old boy [10].…”

A Combined Approach of Amniotic Membrane and Oral Mucosa Transplantation for Fornix Reconstruction in Severe Symblepharon

“…26 Cases with failure in this series included an eye with severe symblepharon due to xeroderma pigmentosum, and an eye with severe thermal burn in a 3-year-old boy. The failure in the former case may have been caused by the progressive shrinkage and loss of tissues, which are known to happen in cases with xeroderma pigmentosum, 32 and in the latter case it may be because of the well-known exuberant inflammatory reaction in the young. Although a longer interval between the initial injury and the surgery in children may result in better anatomical outcome because of the reduced ocular surface inflammation, it is associated with higher risk for amblyopia.…”

Heterogeneity of xeroderma pigmentosa: A case series

“…Chronic sunlight exposure can cause ocular surface neoplasms and keratitis leading to corneal opacification and neovascularization. (3,4) As there are very few reports regarding ocular involvement in XP, this article intends to report three special cases diagnosed with XP and their presentation.…”