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March 1993

Clinical Syndromes Associated With DNA Repair Deficiency and Enhanced Sun Sensitivity

Author Affiliations

Laboratory of Radiobiology and Environmental Health University of California San Francisco, CA 94143-0750

Arch Dermatol. 1993;129(3):348-350. doi:10.1001/archderm.1993.01680240088014

There are several well-defined genetic diseases in which sensitivity to sun or ultraviolet (UV)-B light is increased and in which deficient DNA repair is the primary genetic deficiency; the connection between the repair deficiencies and the main clinical symptoms of the skin in these diseases seems explicable and noncontroversial. The archetype for DNA repair-deficient diseases is xeroderma pigmentosum (XP), a rare autosomal disease in which patients show a greater than 1000-fold increased frequency of sunlight-induced skin cancer.1 The frequency of the disorder is about one in one million in the United States and characteristically involves reduced capacity to repair UV damage to DNA. The inability of XP cells in the skin to repair DNA damage from sunlight can be directly related to the increased cancer risk in this disease.2

DNA repair deficiency is also a clear hallmark of several other diseases.1 Cockayne's syndrome (CS) involves a deficiency in the ability to repair actively

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