A new LRP6 variant and Camurati-Engelmann-like disease

Abstract

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.

Keywords: Genetics; Osteosclerosis; lrp6.