A new LRP6 variant and Camurati-Engelmann-like disease

Introduction Camurati-Engelmann disease is a rare autosomal dominant bone dysplasia belonging to the group of craniotubular hyperostoses. Genetic analysis classically shows mutation on TGFβ1 gene. Case report A young woman was hospitalized with intense pain in lower limbs, associated to radiographic hyperostosis and sclerosis of the long bones. Results Mutation on LRP6 has recently been associated to high bone mass. In this case report, a rare missense variant on LRP6 gene was associated to radiographic features of Camurati-Engelmann. Conclusions More studies should be conducted to assess the pathological role of this variant in Camurati-Engelmann-like disease.