Autosomal recessive carpotarsal osteolysis

Autosomal recessive carpotarsal osteolysis (also known as multicentric carpotarsal osteolysis with or without nephropathy, autosomal recessive type) is an extremely rare inherited skeletal disorder characterized by progressive destruction (osteolysis) of the carpal bones (wrist) and tarsal bones (ankle). The condition typically presents in childhood with pain, swelling, and progressive loss of function in the hands and feet as the small bones gradually dissolve and are resorbed. Affected individuals may develop significant disability due to the progressive nature of the bone destruction, which can also involve other skeletal sites. Some patients may develop additional features including nephropathy (kidney disease), which can progress to renal failure and significantly impact prognosis. The disease follows an autosomal recessive inheritance pattern, meaning that both copies of the responsible gene must carry a pathogenic variant for the condition to manifest. The exact genetic basis of the autosomal recessive form remains incompletely characterized, distinguishing it from the autosomal dominant form of multicentric osteolysis which has been linked to mutations in the MAFB gene. The skeletal and renal systems are the primary organ systems affected. Diagnosis is typically based on clinical findings and radiographic evidence of progressive osteolysis of the carpal and tarsal bones, combined with family history consistent with recessive inheritance. There is currently no curative treatment for autosomal recessive carpotarsal osteolysis. Management is supportive and symptomatic, focusing on pain control, physical and occupational therapy to maintain function, orthopedic interventions as needed, and monitoring of renal function. In cases where nephropathy progresses to end-stage renal disease, dialysis or kidney transplantation may be required. Given the extreme rarity of this condition, management is best coordinated through multidisciplinary teams at centers experienced in rare skeletal disorders.

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