PDF(Pubmed)
Abstract：
BACKGROUND: Multicentric carpotarsal osteolysis (MCTO) is a rare genetic disorder characterized by the progressive loss of bone in the hands, feet, and other skeletal structures. It presents with symptoms that may resemble those of juvenile idiopathic arthritis, making diagnosis challenging for clinicians. The identification of MAF BZIP Transcription Factor B (MAFB) mutations as significant contributors to MCTO represents a major breakthrough in our understanding of the pathogenesis of this rare skeletal disorder.
METHODS: Our objective was to present the phenotype, treatment, and outcome of a patient with a variant of MAFB-induced MCTO to broaden the range of clinical features associated with MCTO and share our clinical experience for improved diagnosis and treatment. In our case, early MRI examination of the bones and whole exome sequencing enabled an early and accurate MCTO diagnosis, and timely Denosumab administration resulted in no deterioration.
CONCLUSIONS: This suggests that MRI examination and whole exome sequencing should be considered when MCTO is suspected, and Denosumab might be an option in the treatment of MCTO.
METHODS: Our objective was to present the phenotype, treatment, and outcome of a patient with a variant of MAFB-induced MCTO to broaden the range of clinical features associated with MCTO and share our clinical experience for improved diagnosis and treatment. In our case, early MRI examination of the bones and whole exome sequencing enabled an early and accurate MCTO diagnosis, and timely Denosumab administration resulted in no deterioration.
CONCLUSIONS: This suggests that MRI examination and whole exome sequencing should be considered when MCTO is suspected, and Denosumab might be an option in the treatment of MCTO.
摘要：
背景：多心角质层骨溶解（MCTO）是一种罕见的遗传性疾病，其特征是手部骨骼进行性丢失，脚,和其他骨骼结构。它的症状可能类似于幼年特发性关节炎，诊断对临床医生具有挑战性。将MAFBZIP转录因子B（MAFB）突变鉴定为MCTO的重要贡献者，代表了我们对这种罕见骨骼疾病发病机理的理解的重大突破。
方法：我们的目标是呈现表型，治疗,以及患有MAFB诱导的MCTO变体的患者的结果，以扩大与MCTO相关的临床特征范围，并分享我们的临床经验以改善诊断和治疗。在我们的案例中,骨骼的早期MRI检查和整个外显子组测序能够实现早期和准确的MCTO诊断，及时的Denosumab管理没有导致恶化。
结论：这表明，当怀疑MCTO时，应考虑MRI检查和整个外显子组测序，Denosumab可能是治疗MCTO的一种选择。
方法：我们的目标是呈现表型，治疗,以及患有MAFB诱导的MCTO变体的患者的结果，以扩大与MCTO相关的临床特征范围，并分享我们的临床经验以改善诊断和治疗。在我们的案例中,骨骼的早期MRI检查和整个外显子组测序能够实现早期和准确的MCTO诊断，及时的Denosumab管理没有导致恶化。
结论：这表明，当怀疑MCTO时，应考虑MRI检查和整个外显子组测序，Denosumab可能是治疗MCTO的一种选择。
