Photo Credit: Nadzeya Haroshka

The following is a summary of “Multicentric carpotarsal osteolysis syndrome with variants of MAFB gene: a case report and literature review,” published in the March 2024 issue of Pediatrics by Gao et al.

Multicentric carpotarsal osteolysis (MCTO) is a rare genetic disorder characterized by progressive bone loss affecting the hands, feet, and other skeletal structures, often posing diagnostic challenges due to symptom overlap with juvenile idiopathic arthritis. A significant advancement in understanding MCTO’s pathogenesis comes with recognizing mutations in the MAF BZIP Transcription Factor B (MAFB) gene as key contributors. The objective is to present a case illustrating the phenotype, treatment, and outcome of a patient with a variant of MAFB-induced MCTO, aiming to expand the spectrum of clinical features associated with this condition and contribute to enhanced diagnostic and therapeutic approaches. 

Through early MRI examination of bone structures and subsequent whole exome sequencing, their case exemplifies the pivotal role of advanced diagnostic modalities in facilitating timely and accurate MCTO diagnosis. Moreover, the administration of Denosumab, initiated promptly upon diagnosis, yielded favorable outcomes with no observed deterioration.

These findings underscore the potential value of MRI and whole exome sequencing in suspected MCTO cases and suggest Denosumab as a viable therapeutic option warranting further exploration in MCTO management strategies.

Source: ped-rheum.biomedcentral.com/articles/10.1186/s12969-024-00964-6