Early onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome

Bazex-Dupré-Christol syndrome is a rare genetic condition characterised by basal cell carcinomas, follicular atrophoderma and hypotrichosis. Until recently, the molecular basis of the condition was largely unknown. A recent study has identified a section of duplicated DNA on the X chromosome of those with the condition which appears to be the underlying cause of the syndrome. This case study looks at a family with five affected members over three generations. They had been diagnosed with the syndrome in early life and had previously undergone genetic testing with no cause being found. The index patient within this family has now been identified as having the same duplication as those tested in the initial study.