BACKGROUND: The Bazex-Dupré-Christol syndrome is characterized by follicular atrophoderma, congenital hypotrichosis, and basal cell neoformations that include basal cell carcinomas and basal cell nevi. OBSERVATIONS: We describe a large family in which 20 persons across four generations present with typical features of the Bazex-Dupré-Christol syndrome. However, the clinical picture in this family differs with regard to gender and age. Male subjects have a uniformly severe disease, whereas female subjects exhibit a range of severity of the syndrome. The most striking difference between male and female subjects is provided by hypotrichosis. In male subjects, hypotrichosis is diffuse and affects all scalp hairs. On the other hand, female subjects do not have hypotrichosis, but normal hairs are intermingled with abnormal hairs. In infancy and childhood, multiple milia are present, whereas in adults only a few milia are observed. CONCLUSIONS: The family pedigree seems to be consistent with an X-linked inheritance, since male-to-male transmission does not occur. Moreover, further evidence of an X-linked dominant mode of inheritance could be derived from the observation of gender differences that can be attributed to the lyonization phenomenon in female subjects. From a clinical and morphologic point of view, the Bazex-Dupré-Christol syndrome seems to be a disorder of the hair follicle.
BACKGROUND: The Bazex-Dupré-Christol syndrome is characterized by follicular atrophoderma, congenital hypotrichosis, and basal cell neoformations that include basal cell carcinomas and basal cell nevi. OBSERVATIONS: We describe a large family in which 20 persons across four generations present with typical features of the Bazex-Dupré-Christol syndrome. However, the clinical picture in this family differs with regard to gender and age. Male subjects have a uniformly severe disease, whereas female subjects exhibit a range of severity of the syndrome. The most striking difference between male and female subjects is provided by hypotrichosis. In male subjects, hypotrichosis is diffuse and affects all scalp hairs. On the other hand, female subjects do not have hypotrichosis, but normal hairs are intermingled with abnormal hairs. In infancy and childhood, multiple milia are present, whereas in adults only a few milia are observed. CONCLUSIONS: The family pedigree seems to be consistent with an X-linked inheritance, since male-to-male transmission does not occur. Moreover, further evidence of an X-linked dominant mode of inheritance could be derived from the observation of gender differences that can be attributed to the lyonization phenomenon in female subjects. From a clinical and morphologic point of view, the Bazex-Dupré-Christol syndrome seems to be a disorder of the hair follicle.
Authors: N Bodak; S Queille; M F Avril; B Bouadjar; C Drougard; A Sarasin; L Daya-Grosjean Journal: Proc Natl Acad Sci U S A Date: 1999-04-27 Impact factor: 11.205