Too rare to care? A scoping review of clinical management of multicentric carpotarsal osteolysis

Introduction Multicentric Carpotarsal Osteolysis (MCTO) is an ultra-rare autosomal dominant skeletal dysplasia caused by heterozygous missense variants in MAFB . Evidence regarding its clinical spectrum and management remains fragmented. Methods We conducted a scoping review following PRISMA-ScR guidelines to systematically map published cases of MCTO. Bibliographic databases were searched from inception to January 2026.Individual-level clinical and management data were extracted and synthesized narratively. Results Fifty-two studies were included, comprising 103 unique patients. Mean age at symptom onset was 3.6 years, with a substantial diagnostic delay (mean 13 years), frequently due to misdiagnosis as juvenile idiopathic arthritis (60.6%). Musculoskeletal involvement predominated, particularly of the wrist (83.1%) and ankle (51.7%), often progressing to deformities, contractures, and functional limitation. Renal involvement was the most common extra-skeletal manifestation (55.8%), typically presenting with childhood-onset proteinuria and frequently associated with focal segmental glomerulosclerosis; 19 patients progressed to end-stage kidney disease. Genotype–phenotype analysis suggested differential renal risk among recurrent MAFB variants. Ocular (20%), neurological (15.3%), and cardiovascular (7.7%) features were also reported. Pharmacological treatments were heterogeneous and largely supportive, with limited evidence of disease modification. Rehabilitation interventions were inconsistently described and rarely systematically evaluated. Conclusions MCTO is a multisystem disorder with substantial diagnostic delay and significant renal and functional burden. Coordinated surveillance and structured multidisciplinary management, including physiotherapy and occupational therapy, are needed to improve long-term outcomes.