Albahkali, et al The general skeletal features of Multicentric Carpotarsal Osteolysis: what the radiologist needs to know

  • Salha Albahkali King Saud Medical City
Keywords: Multicentric carpo-tarsalcartotharsal osteolysis, Skeleton, MAFB, Radiologist, Nephropathy

Abstract

Radiographic imaging is the first investigational step in detecting of MCTO, and the radiologist must be aware then familiar with the radiolgical features in order both to reach a prompt diagnosis and then to classify the patient’s condition at this important time for considering early management.  Here we review the literature on this topic. Patients with MCTO are frequently diagnosed with JIA. Initially. Among the many published studies, some are case reports that describe the phenotypical manifestations with a brief discussion of the radiographic findings and subsequently of the genetic analysis which eventually leads to a definitive diagnosis. Some patients develop end stage renal failure, and a delay in identifying this condition can lead to unfavorable progression of the disease.  In addition, we found reports of joint inflammation based on imaging and of pain relief with antirheumatics for osteolysis and bone destruction. Various studies discuss the radiological findings, including the disappearance of the carpal and tarsal bones. Others describe the genetic mutations, including MAFB, that are associated with the condition, and its possible management through the use of therapeutic drugs. A very recent description of serial radiographs taken from a young age suggests that dysfunctional bone formation can play a role in the skeletal phenotype of MCTO. The atypical radiological findings, failure to obtain remission with medical treatment and consanguinity, should guide clinicians toward diagnosis. We summarize the X-ray findings which are highly specific and can therefore differentiate between this condition and others. Further performance of genetic tests is confirmative.

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How to Cite
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Albahkali S. Albahkali, et al The general skeletal features of Multicentric Carpotarsal Osteolysis: what the radiologist needs to know. Int J Med Res Rev [Internet]. 2024Jan.15 [cited 2024Mar.4];11(6):146-58. Available from: https://ijmrr.medresearch.in/index.php/ijmrr/article/view/1454
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