Akademik Veri Yönetim Sistemi
International journal of rheumatic diseases, cilt.26, sa.10, ss.2064-2068, 2023 (SCI-Expanded)
Multicentric carpotarsal osteolysis (MCTO) syndrome, is typically characterized
by progressive bone resorption in especially carpal and tarsal bones, in addition to
abnormal facial appearance and proteinuria. This disorder is caused by monoallelic
pathogenic MAFB mutations, which result in excessive osteoclastogenesis via aberrant
receptor activator of nuclear factor kappa-B
ligand activation. Most cases are
sporadic with de-novo
mutations, and it is still unclear why carpal and tarsal bones are
predominantly affected. The early phases of MCTO resemble juvenile idiopathic arthritis
(JIA) with ankle and wrist swelling and pain, even with inflammatory changes in
magnetic resonance imaging. Herein we report a pediatric patient, previously treated
with antirheumatic drugs, and eventually diagnosed with MCTO. This case was a descriptive
case with exophthalmos, significant proteinuria, and total loss of carpal and
tarsal bones at the time of genetic diagnosis. Similar to the literature, our case had
typical radiological findings despite methotrexate and anti-tumor
necrosis factor-alpha
treatment. However, while arthritis affecting joints other than wrists and ankles
has not been reported so far in the literature, our case had bilateral sacroiliitis which
completely resolved after adalimumab treatment. We cannot be sure if sacroiliitis was
incidental or occurred as a component of the disease, nonetheless, we think that sharing
our experience may lead to easy and early recognition of MCTO, with more knowledge
on rare manifestations of MCTO, and thus we may be able to clarify the benefits
of denosumab, which is the most promising agent in early phases of the disease.