Bone · 2020
A new LRP6 variant and Camurati-Engelmann-like disease.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Pickering Marie-Eva, Ltaief-Boudrigua Aicha, Feurer Elodie, Collet Corinne, Chapurlat Roland
Аннотация
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.
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.