Impaired Ultraviolet-B-Induced Cytokine Induction in Xeroderma Pigmentosum Fibroblasts

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.

To look for a direct role of ultraviolet radiation (UV) exposure in cutaneous melanoma induction, we studied xeroderma pigmentosum (XP) patients who have defective DNA repair resulting in a 1000-fold increase in melanoma risk. These XP melanomas have the same anatomic distribution as melanomas in the general population. We analyzed laser capture microdissection samples of skin melanomas from XP...

Defective postreplication repair in xeroderma pigmentosum variant fibroblasts.

Postreplication repair (PRR) was quantified in normal human fibroblasts and in xeroderma pigmentosum (XP) variant fibroblasts after treatment with UV or benzo[a]pyrene diol epoxide-I (BPDE-I). PRR may be defined as the elimination of discontinuities in the daughter-strand DNA and the replicative bypass of lesions in the DNA template. Pathways of PRR reduce the number of DNA growing points that ...

Xeroderma pigmentosum.

Xeroderma pigmentosum.

OBJECTIVE To describe the features of Xeroderma pigmentosum observed in the stage 3 of the disease. STUDY DESIGN Case series. PLACE AND DURATION OF STUDY Mayo Hospital Lahore, from December 2001 to September 2008. METHODOLOGY All patients diagnosed with Xeroderma pigmentosum stage 3 in the outpatient department of the study centre, were included. The age at first presentation, tumour site...

Xeroderma pigmentosum.

Seven cases of XP seen during a relatively short period of time, possibly indicate a high frequency of this gene in this part of the country. The gene frequency in the general population has been reported to be 1 in 200 million and the frequency of the disorder, 4 in 1 million(3). Countries like Libya, Egypt, Israel and Japan, with a high degree of consanguinity, have a high incidence of this d...