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.
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