Remarkable improvement of articular pain by biologics in a Multicentric carpotarsal osteolysis patient with a mutation of MAFB gene.

Introduction 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.