Xeroderma pigmentosum

Xeroderma pigmentosum^1-11 is a rare, autosomal recessive disease. Affected patients have sun-sensitivity resulting in progressive degenerative changes of the skin and eyes, often leading to neoplasia. Some xeroderma pigmentosum patients have, in addition, progressive neurologic degeneration. Xeroderma pigmentosum is associated with defective DNA repair. This chapter will review the clinical and laboratory abnormalities that have been found in patients with xeroderma pigmentosum. It is an extension and an updating of earlier reviews.^2,11 Particular emphasis will be placed on describing the wide spectrum of clinical manifestations in this disorder and pointing out the genetic heterogeneity of the molecular defects. This review will include information on a previously unreported series of xeroderma pigmentosum patients observed in Israel.