Abstract
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare autosomal dominant disorder, characterized by aggressive osteolysis of the carpal and tarsal bone, and progressive nephropathy leading to end-stage renal disease. Recently, heterozygous mutations in MAFB gene within a short region of the amino-terminal transcriptional activation domain had been reported to cause MCTO. Although affected patients suffer from early childhood with a clinical appearance mimicking juvenile idiopathic arthritis, most of anti-rheumatic agents are ineffective to control their pain.
Highlights
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare autosomal dominant disorder, characterized by aggressive osteolysis of the carpal and tarsal bone, and progressive nephropathy leading to end-stage renal disease
Affected patients suffer from early childhood with a clinical appearance mimicking juvenile idiopathic arthritis, most of anti-rheumatic agents are ineffective to control their pain
Published: 28 September 2015 doi:10.1186/1546-0096-13-S1-P152 Cite this article as: Nishikomori et al.: Remarkable improvement of articular pain by biologics in a Multicentric carpotarsal osteolysis patient with a mutation of MAFB gene
Summary
Remarkable improvement of articular pain by biologics in a Multicentric carpotarsal osteolysis patient with a mutation of MAFB gene. R Nishikomori1*, T Kawai[1], K Toshiyuki[2], H Oda[1], T Yasumi[1], K Izawa[1], O Ohara[3], T Heike[1]. From 8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases Dresden, Germany. From 8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases Dresden, Germany. 30 September - 3 October 2015
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