Experience with a Selective Immunosuppressant in a Child with Multiple Epiphyseal Dysplasia Manifesting Features of Osteoarthritis: A Case Report

BACKGRAUND: Multiple epiphyseal dysplasia (MED) represents a group of inherited skeletal disorders characterized by genetic heterogeneity, diverse inheritance patterns, and variable clinical manifestations. One common and unfavorable outcome of MED is the development of coxarthrosis accompanied by femoral head dislocation. While the use of non-steroidal anti-inflammatory drugs (NSAIDs) is considered pathogenetically justified, it is not always effective.

CLINICAL CASE: This article presents a clinical case describing the successful use of the anti-inflammatory drug tofacitinib, a selective immunosuppressant, in an 11-year-old child with type 4 MED. The disease course featured osteoarthritis and a high risk of right femoral head dislocation, persisting despite a prolonged course of NSAIDs. Administration of tofacitinib at a dose of 10 mg/day in two divided doses resulted in the resolution of arthritis and prevention of an unfavorable outcome.

DISCUSSION: It is well-established that Janus kinase (JAK) inhibitors represent targeted synthetic disease-modifying anti-rheumatic drugs. JAK inhibitors demonstrate efficacy comparable to genetically engineered biological agents traditionally used in the treatment of juvenile idiopathic arthritis. Experience with selective JAK inhibitors in rheumatology may provide grounds for their use in children with skeletal dysplasias complicated by osteoarthritis.

CONCLUSION: Type 4 MED is a skeletal dysplasia whose natural history inevitably leads to coxarthrosis and femoral head dislocation. The use of JAK inhibitors in children with type 4 MED presenting signs of osteoarthritis appears justified and highly promising.