[A whole family affected by xeroderma pigmentosum: clinical and genetic particularities]. / Xeroderma pigmentosum: particularités cliniques et génétiques d'une famille dont tous les membres sont atteints.

INTRODUCTION: Xeroderma pigmentosum is a relatively frequent genodermatosis in North Africa. It is characterized by abnormal sensitivity to ultraviolet light, responsible for the early occurrence of multiple cutaneous neoplasms. We present the results of the clinical and biological investigations in a family in which all its members exhibited xeroderma pigmentosum. PATIENTS AND METHODS: Since 1962, the father, mother, the 5 children and the maternal uncle were all followed-up in the dermatology department in Tunis for a variant of xeroderma pigmentosum. Clinical (dermatological, neurological and ophthalmologic), biological, photobiological and molecular biology investigations were carried out. RESULTS: Diagnosis of a variant of xeroderma pigmentosum was established on the delayed appearance (after the age of 4) of poikiloderma and the early onset of multiple carcinomas, without neurological disorders. Fifty-eight squamous cell and 3 basal cell carcinomas were diagnosed and treated by surgical exeresis or radiotherapy. The third child, treated with etretinate for 6 years, had developed 38 carcinomas. Contrary to the parents, whose first carcinomas had appeared at the age of 34 and 40 years, the cutaneous cancers in the children appeared early, between the ages of 17 and 24. The minimal erythematous dose was normal in all these patients. Conversely, the phototest revealed persistent erythema and the delayed appearance of multiple dyskeratosis cells. Molecular biology confirmed the diagnosis of xeroderma pigmentosum with the presence of a low level DNA repair. The third child, the father and the uncle respectively exhibited DNA repair rates of 32, 57 and 72%, compared with normal controls. The results of the complementarity tests conducted in the third child suggested that this family belonged to the genetic F group. Discussion The clinical and molecular data confirmed the diagnosis of xeroderma pigmentosum in this family and their genetic F group profile. However, this family exhibited clinical (the cutaneous involvement was more severe in the children) and molecular heterogeneity and the level of DNA repair was high in comparison with the levels (between 12 and 15%) reported by Japanese authors in group F xeroderma pigmentosum. The third child exhibited 10-fold more carcinomas that his siblings. This high rate of carcinoma may be explained by excessive exposure to sun and/or the retinoid treatment, particularly since his DNA repair rate (32%) was relatively high compared with that of severe (0-5%) and moderate (5-15%) forms of the disease.

Antibody patterns to herpesviruses in kaposi's sarcoma: serological association of european kaposi's sarcoma with cytomegalovirus.

Sera from patients with Kaposi's sarcoma (KS) were examined for antibody titres to cytomegalovirus (CMV), Epstein-Barr virus (EBV) and herpes simplex virus (HSV) types 1 and 2 by four techniques: indirect haemagglutination (IHA), complement fixation (CF), virus neutralization (NT) and indirect immunofluorescence (IF). The patients were classified, according to the stage of disease, as progressive and regressive. Control sera were obtained from healthy adults, matched for age, sex, race, socioeconomic status and geographic location, as well as from patients with melanoma, some of whom were receiving chemotherapy similar to that given to the KS patients. All KS sera contained CMV-neutralizing antibodies. Seventy-five percent of the European KS patients, mainly regressors, showed elevated anti-CMV titres by IHA with a significant increase in the geometric mean over the corresponding healthy adult group and the melanoma group. An overrepresentation of high anti-CMV titres, although less marked, was found by CF. There was no significant association with antibodies to EBV, HSV-1 and HSV-2 related antigens. By contrast, the African KS patients, mainly progressors, did not show a serologic association with CMV or with EBV and HSV-1 and 2. The implication of these results is discussed.