A newly developed cell-free system was used to study DNA repair synthesis carried out by extracts from human cell lines in vitro. Extracts from a normal human lymphoid cell line and from cell lines established from individuals with hereditary dysplastic nevus syndrome perform damage-dependent repair synthesis in plasmid DNA treated with cis- or trans-diamminedichloro-platinum(II) or irradiated ...

Radioautograms of intact ultraviolet (UV)-irradiated epider mis from a patient with xeroderma pigmentosum showed no detectable abnormality in UV-induced thymidine-3H incorpo ration. This result is consistent with findings in this patient's UV-irradiated skin fibroblasts and lymphocytes and contrasts with findings in cells from typical xeroderma pigmentosum patients, all of which exhibit an impa...

Postreplication repair has been studied in ultraviolet light (UV)-irradiated fibroblast strains derived from eight apparently normal control donors and seven xeroderma pigmentosum patients. One control donor strain had an intermediate defect in postreplication repair similar to that in excision-deficient xeroderma pigmentosum fibroblasts. However, unlike the xeroderma pigmentosum strains, this ...

We report a case of 15 year old female patient of xeroderma pigmentosum with large squamous cell carcinoma on the left side of cheek. She received combination chemotherapy with isotretinoin for a period of 4 months and showed complete clinical remission of tumour. The role of isotretinoin in cancer prevention and management of malignancies associated in xeroderma pigmentosum is also reviewed th...

BACKGROUND Xeroderma pigmentosum, an autosomal recessive disease that occurs with a frequency of 1:250,000, is caused by a genetic defect in nucleotide excision repair enzymes. Mutation of these enzymes leads to the development of multiple basal cell and squamous cell carcinomas. OBJECTIVES We present a case of xeroderma pigmentosum in a patient with cervical and intraparotid metastatic disea...

Of the eight human genes implicated in xeroderma pigmentosum, defects in XPG produce some of the most clinically diverse symptoms. These range from mild freckling to severe skeletal and neurologic abnormalities characteristic of Cockayne syndrome. Mildly affected xeroderma pigmentosum group G patients have diminished XPG endonuclease activity in nucleotide excision repair, whereas severely affe...

The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosi...