A new LRP6 variant and Camurati-Engelmann-like disease.

Abstract

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. A young woman was hospitalized with intense pain in lower limbs, associated to radiographic hyperostosis and sclerosis of the long bones. 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. More studies should be conducted to assess the pathological role of this variant in Camurati-Engelmann-like disease.