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Xeroderma pigmentosum. Complementation group C and malignant melanoma

1984; American Medical Association; Volume: 120; Issue: 2 Linguagem: Inglês

10.1001/archderm.120.2.175

1538-3652

Henry T. Lynch, Ramon M. Fusaro, John A. Johnson,

melanin and skin pigmentation

Xeroderma pigmentosum (XP) is an exceedingly rare, autosomal recessive, multisystem disorder that harbors a strong predisposition to skin cancer induced by solar radiation. 1 The pioneering efforts of Cleaver, 2 studying DNA repair defects induced by UV radiation (UVR) stimulated interest in XP. Xeroderma pigmentosum is more heterogeneous than originally perceived, as evidenced by the presence of at least eight subgroups that are based on the ability to repair DNA after UV irradiation of cultured skin fibroblasts. Cells deficient in excision repair (classic XP) have been classified as complementation groups A through G; at least one other group, the XP variant, exhibits defective postreplication repair. The XP cell types seem to be controlled by a separate allele, since multiple patients affected within a given kindred show the same complementation group. 3 We have observed one family with XP for almost two decades. We provided samples from this family for skin