Xeroderma pigmentosum in Libya

Background A preliminary study of 24 cases of xeroderma pigmentosum (XP) wa s presented in 1990 and later published in 1992. Since then we have seen 18 further cases. Objective To study the clinical profile of Libyan cases of XP. Methods With the help of a special protocol, all 42 cases.(23 girls and 19 boys; from 29 families) treated and followed between 1981 and 1994 were sub jected to detailed analysis. Results A history of consanguinity was present in the parents of 39 patient s. XP in Libya is characterized by a relatively high incidence (approximate ly 15-20 per million of the population), early onset of initial manifestati ons (median age, 12 months) and malignant tumors (median age, 8 years), sev ere ocular and oral lesions in a high percentage of patients, and early dea th (median age, 15.5 years). The malignant skin tumors seen were squamous c ell carcinoma (SCC) in 23 patients,- basal cell carcinoma(BCC) in 17 patien ts, and basosquamous carcinoma in two patients. Malignant melanoma was not seen, but lentigo maligna was found in one case. SCC of the tongue, carcino ma of the thyroid, and lymphatic leukemia affected individual patients. Sub normal physical growth was observed in six patients, but none of the patien ts had significant neurologic abnormalities. The results of etretinate ther apy in nine patients revealed that it is an effective preventive agent agai nst carcinogenesis, but not a curative one. Conclusions Severe ophthalmic manifestations affected a higher percentage o f patients at an early age. Malignant melanoma did not develop in any case, except for lentigo maligna in one patient.