J Pediatr Genet 2018; 07(04): 174-179
DOI: 10.1055/s-0038-1657760
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome

Jariya Upadia
1  Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, United States
,
Alicia Gomes
1  Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, United States
,
Peter Weiser
2  Department of Pediatrics, University of Alabama at Birmingham, Alabama, United States
,
Maria Descartes
1  Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, United States
› Author Affiliations
Further Information

Publication History

23 May 2017

26 April 2018

Publication Date:
16 June 2018 (online)

Abstract

Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder caused by heterozygous mutations in the MAFB gene (v-maf musculoaponeurotic fibrosarcoma oncogene ortholog B). This is an autosomal dominant condition with a high frequency of sporadic cases. MCTO is characterized by osteolysis of the carpal, metacarpal, and tarsal bones beginning in early childhood with musculoskeletal rheumatologic symptoms such as pain and disability. Renal involvement can be seen in more than half of the patients; from ages 16 months to 42 years and manifests from proteinuria to end-stage renal failure requiring renal transplantation. The association of MAFB gene mutations with this genetic condition has aided in understanding the pathophysiology of the disease. We report here a 7-year-old Caucasian boy and his 33-year-old mother diagnosed with MCTO, with the boy having concomitant juvenile idiopathic arthritis. He was initially diagnosed with arthritis at age 5 years based on bilateral wrist synovial swelling, morning stiffness, and weakness with family history of his mother being diagnosed with erosive psoriatic arthritis leading to limb deformities. Initial therapy for the boy included methotrexate and infliximab with moderate response. Later, during the course of his disease, he underwent a genetic evaluation at age 7 years for history of learning disabilities and dysmorphic features. Maternal evaluation and radiographic examination led to a clinical diagnosis of MCTO in the mother, and subsequent testing for MAFB gene in the son revealed a mutation at c.206C > T (p.Ser69Leu), the most commonly reported genetic change in MCTO. Nevertheless, further imaging still confirmed ongoing arthritis, and therapy was adjusted based on its progression including abatacept, tocilizumab, and pamidronate. Our report highlights the possibility of concomitant inflammatory arthropathy in MCTO.