Effective treatment of pretibial myxoedema with tofacitinib: a case report and analysis of immunopathogenesis
Year: 2025
Type: article
Study design: Case Report
Abstract: BACKGROUND: Pretibial myxoedema (PTM), a rare extrathyroidal manifestation of Graves' disease (GD), is characterized by dermal glycosaminoglycans (GAGs) deposition. Current therapies (e.g., glucocorticoids) show limited efficacy with high relapse rates. Emerging evidence implicates JAK-STAT pathway activation via thyrotropin receptor antibodies (TRAb) in the pathogenesis of PTM, suggesting JAK inhibitors, such as Tofacitinib, as potential therapy. CASE PRESENTATION: A 39-year-old man with GD and Graves' orbitopathy (GO) presented with bilateral pretibial non-pitting edema and itchy erythematous nodules. Histopathology from skin biopsy confirmed GAGs deposition and elevated TRAb (> 40 IU/L). After transient response to intralesional glucocorticoids, oral tofacitinib (5 mg twice daily) was initiated. Significant resolution of edema (body surface area: 12%→3%) and GO occurred within 1 month, sustained over 6 months without adverse events. CONCLUSION: Tofacitinib demonstrated rapid and durable efficacy in refractory PTM, likely by suppressing JAK-STAT-mediated fibroblast activation and pro-inflammatory cytokine release. This supports its role as a potential targeted oral therapy for PTM.
Source: Thyroid Research
Authors: Chen-xi Zhao, Ming-dan Zhao, Xin Li
Language: English
Subfield: Pathology and Forensic Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,790
OpenAlex ID: W4415355292