Xeroderma pigmentosum -A Report of Three Cases from Two Families / 第三军医大学学报

ABSTRACT

the lack of which interferes the normal repair-ment and cleavage of the damaged DNA of the fibroblasts caused by ultraviolet irradiation.Three cases of xeroderma pigmentosnm from two families were presented. One of the patients was a 17-year-old peasant girl, the fourth daughter of a couple who were first cousins before marriage. A squamous cell carcinoma was found in her right medial canthus when she was 15- The tumor disappeared after x-ray treatment but recurred one year after. The cancerous ulcer was 4 cm in diameter and involved the internal half of the right cornea on admission. In addition multiple brownish spots were seen scattering all over her face, eyelids, back of the neck, and two upper extremities. The other two patients were a two-year-old girl and a three-year-old boy, the parents of whom were also first cousins before marriage.The clinical manifestations, prevention, and treatment of this malady were reviewed and discussed.