PDF(Pubmed)
Abstract：
Multicentric carpotarsal osteolysis syndrome (MCTO; MIM #166300) is a rare skeletal disorder characterized by osteolysis affecting particularly the carpal, metacarpal, and tarsal bones, although other bones might be involved. MCTO is an autosomal dominant disease caused by heterozygous variants in the MAFB gene, frequently misdiagnosed as juvenile rheumatoid arthritis due to similar clinical manifestations. This study reports the first Brazilian family diagnosed with MCTO with progressive osteolysis of the carpal and tarsal bones, presenting a c.161C>T (p.Ser54Leu) heterozygous variant in the MAFB gene, describing the clinical, radiological, and molecular findings, compared with literature data, and discussing the different clinical and molecular diagnosis, as well as the natural history of the disease. Since MCTO is a disorder with progressive symptoms, an early diagnosis is important to avoid unnecessary investigations and treatments and to provide the proper follow-up.
摘要：
多中心腕骨骨溶解综合征（MCTO;MIM#166300）是一种罕见的骨骼疾病，其特征是骨溶解特别影响腕骨，掌骨,和tar骨，尽管可能涉及其他骨头。MCTO是由MAFB基因中的杂合变体引起的常染色体显性疾病，常因临床表现相似而误诊为幼年型类风湿性关节炎。这项研究报告了第一个被诊断为MCTO的巴西家庭，腕骨和tal骨进行性骨溶解，呈现c.161C>T(p.Ser54Leu）MAFB基因中的杂合变体，描述临床，放射学,和分子发现，与文献数据相比，讨论不同的临床和分子诊断，以及疾病的自然史。由于MCTO是一种具有进行性症状的疾病，早期诊断对于避免不必要的调查和治疗以及提供适当的随访非常重要.
