Bazex-Dupre-Christol syndrome

Bazex-Dupré-Christol syndrome is a genodermatosis predisposing to early-onset basal cell carcinoma. The disease is manifested in the neonatal period or in infancy. Characteristics are a follicular atrophoderma, sparse hairiness, and reduced sweat secretion.

Basal cell carcinomas occur in 40% of patients, usually during the second and third decade of life. Other common features of the syndrome include basal cell hamartomas and trichoepitheliomas.

The gene could be mapped in the chromosome region Xq24-q27.1, with the UBE2A gene at the locus Xq24 representing a good candidate. It is involved in the repair of UV-damaged DNA.