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#x3e;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.
Mol Syndromol

中文翻译：

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患有 MAFB 错义变异的母亲和女儿的多中心腕跖骨溶解综合征和疾病的自然史

多中心腕掌骨溶解综合征 (MCTO; MIM #166300) 是一种罕见的骨骼疾病，其特征是骨溶解，特别是影响腕骨、掌骨和跗骨，尽管可能涉及其他骨骼。MCTO是一种由MAFB基因杂合变异引起的常染色体显性遗传病，由于临床表现相似，常被误诊为幼年类风湿关节炎。本研究报告了第一个巴西家庭被诊断患有 MCTO，伴有腕骨和跗骨进行性骨质溶解，在 MAFB 中呈现 c.161C#x3e;T (p.Ser54Leu) 杂合变异体基因，描述临床、放射学和分子学发现，与文献数据进行比较，并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，因此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。
摩尔综合症