THE BAZEX-DUPRE-CHRISTOL SYNDROME

Background: The Bazex-Dupre-Christol syndrome is characterized by foll icular atrophoderma, congenital hypotrichosis, and basal cell neoforma tions that include basal cell carcinomas and basal cell nevi. Observat ions: We describe a large family in which 20 persons across four gener ations present with typical features of the Bazex-Dupre-Christol syndr ome. However, the clinical picture in this family differs with regard to gender and age. Male subjects have a uniformly severe disease, wher eas female subjects exhibit a range of severity of the syndrome. The m ost striking difference between male and female subjects is provided b y hypotrichosis. In male subjects, hypotrichosis is diffuse and affect s all scalp hairs. On the other hand, female subjects do not have hypo trichosis, but normal hairs are intermingled with abnormal hairs. In i nfancy and childhood, multiple milia are present, whereas in adults on ly a few milia are observed. Conclusions: The family pedigree seems to be consistent with an X-linked inheritance, since male-to-male transm ission does not occur. Moreover, further evidence of an X-linked domin ant mode of inheritance could be derived from the observation of gende r differences that can be attributed to the lyonization phenomenon in female subjects. From a clinical and morphologic point of view, the Ba zex-Dupre-Christol syndrome seems to be a disorder of the hair follicl e.