Abstract
XERODERMA pigmentosum is a rare cutaneous disease of man displaying an autosomal recessive pattern of inheritance1. The most conspicuous clinical symptom exhibited by homozygously afflicted individuals is hypersensitivity of the skin to solar radiation. Typically, the disorder eventuates in a high incidence of multiple carcinomas and frequently becomes terminal after the onset of metastatic epithelioma2. Two clinical syndromes characterise the disease: (i) the more common classical form manifested solely by the cutaneous abnormalities and (ii) the De Sanctis-Cacchione (DSC) syndrome in which severe neurological complications, including mental retardation, accompany the skin malignancies2.
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PATERSON, M., LOHMAN, P., WESTERVELD, A. et al. DNA Repair Monitored by an Enzymatic Assay in Multinucleate Xeroderma Pigmentosum Cells after Fusion. Nature 248, 50–52 (1974). https://doi.org/10.1038/248050a0
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DOI: https://doi.org/10.1038/248050a0
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