Xeroderma pigmentosum in black south Africans

Background Xeroderma pigmentosum occurs in all races. There is little infor mation on its clinical picture, frequency, and types of malignant lesions i n individuals of African negroid extraction. Methods Fifteen black South African patients, aged from 10 months to 21 yea rs, with xeroderma pigmentosum were prospectively studied. Detailed dermato logic, ophthalmologic, and neurologic examinations were carried out in ail patients. Cutaneous, conjunctival, and lingual malignant lesions were histo logically assessed. Complementation studies were not performed. Results Twelve patients had cutaneous malignancies, predominantly squamous carcinomas, usually several at one time. Carcinomas of the tip of the tongu e occurred in five patients and conjunctival carcinomas in four. Cutaneous and mucosal carcinomas developed at an earlier age than in the series from other parts of the world. Three patients had extensive skin involvement cha racteristic of xeroderma pigmentosum, but did not develop malignancies. The y most likely belong to a complementation group(s) with higher rates of uns cheduled deoxyribonucleic acid (DNA) synthesis. Conclusions Xeroderma pigmentosum in South African black people is characte rized by the very early development of cutaneous, ocular, and tongue squamo us cell carcinomas and usually has a rapid and devastating course.