Xéroderma pigmentosum (XP) is a rare genetic disease characterised by defective repair of DNA damage. We report a retrospective study of the ophtalmologic manifestations of 16 patients with xéroderma pigmentosum, the ophtalmologic manifestations were present in 62% of cases. The age of patients was 7 to 22 years. Photophobia were seen in all patients. Multiple tumors were seen with 5 squamous cell carcinoma. Tumor size was 1 to 6 cm. Ocular involvement occurs in up to 80% of cases of XP. Infection, néoplasia, conjonctiva are the most commun finding. Patients with XP can acquire squamous cell carcinoma at an early age.
[Show abstract][Hide abstract] ABSTRACT: Xeroderma pigmentosum (XP) is an autosomal recessive genetic
disorder of DNA repair in which the body′s normal ability to
repair damage caused by ultraviolet light is deficient. This leads
to a 1000-fold increased risk of cutaneous and ocular neoplasms.
Ocular neoplasms occurring in XP in order of frequency are
squamous cell carcinoma, basal cell carcinoma and melanoma.
Malignant melanomas occur at an early age in patients with
XP. We report a case of XP with massive orbital melanoma in
an eight-year-old boy which is unique due to its amelanotic
presentation confirmed histopathologically.
Indian Journal of Ophthalmology 09/2008; 56(5). DOI:10.4103/0301-4738.42423 · 0.90 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Xeroderma pigmentosum is a rare autosomal recessive disease characterised by hypersensitivity to sunlight, and is associated with a high incidence of skin cancer. We report a case of xeroderma pigmentosum with malignant neurilemoma in a 46-year-old woman which is unique due to its presentation, which was confirmed histopathologically. TRIAL REGISTRATION NUMBER: 31095.
Case Reports 04/2009; 2009. DOI:10.1136/bcr.06.2008.0127
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