A rare case of orbital desmoid-type fibromatosis treated with cryoablation: case report and literature review

Summary

Orbital desmoid fibromatosis (DF) is a rare, non-metastasizing, locally destructive fibroblastic neoplasm, posing diagnostic and therapeutic challenges. There are only 12 reports of orbital DF in the literature. Herein is a case of an infantile orbital DF refractory to multiple chemotherapeutic agents, which was treated with a combination of sorafenib and cryoablation. This case highlights the importance of combination molecular profiling in establishing correct diagnosis, especially with low or equivocal intranuclear β-catenin staining. This case also highlights the efficacy of sorafenib and adjuvant cryoablation as non-surgical treatment options of recalcitrant DF when complete surgical excision is not an option. To the authors knowledge, this is the first report demonstrating the use of cryoablation for orbital DF.