Service de Rhumatologie et Pathologie Osseuse, Hôpital Edouard Herriot, 69437 Lyon, cedex 03, France; Inserm UMR 1033, 69437 Lyon, cedex 03, France; Université de Lyon, 69437 Lyon, cedex 03, France.
Service de Rhumatologie et Pathologie Osseuse, Hôpital Edouard Herriot, 69437 Lyon, cedex 03, France; Inserm UMR 1033, 69437 Lyon, cedex 03, France; Université de Lyon, 69437 Lyon, cedex 03, France.
Bone. 2021 Feb;143:115706. doi: 10.1016/j.bone.2020.115706. Epub 2020 Oct 22.
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.
Camurati-Engelmann 病是一种罕见的常染色体显性遗传性骨发育不良，属于颅骨干骺端肥厚症。经典的基因分析显示 TGFβ1 基因突变。
一名年轻女性因下肢剧烈疼痛住院，伴有长骨放射性骨过度生长和硬化。
LRP6 基因突变最近与骨量增加有关。在本病例报告中，LRP6 基因罕见的错义变异与 Camurati-Engelmann 的影像学特征相关。
应开展更多研究以评估该变异在 Camurati-Engelmann 样疾病中的病理作用。
