Diffuse lipofibromatosis with hand bone involvement: expanding the clinical spectrum: A case report and literature review

Introduction: Lipofibromatosis (LF) is a rare, benign fibroblastic-adipocytic tumor of childhood, classified by the World Health Organization as an intermediate (locally aggressive) soft tissue neoplasm. Due to its rarity, diagnostic criteria and management guidelines remain poorly defined. This article presents an exceptionally rare case of diffuse upper limb LF with osseous involvement in adulthood and provides a comprehensive literature review to contextualize current knowledge on its epidemiology, etiology, clinical presentation, diagnostics, and treatment. Case presentation: A 48-year-old woman presented with progressive deformity of the right hand following lifelong, slowly enlarging soft-tissue masses. Imaging revealed extensive fusion of the distal radius, wrist, and thumb. Histological examination confirmed the diagnosis of LF. Osseous involvement of LF is exceedingly uncommon, and this case represents one of the first documented instances of extensive skeletal involvement. A two-stage reconstructive approach-tumor resection followed by a subsequent corrective thumb osteotomy-led to substantial recovery of hand function, as reflected in a 15,9-point improvement in the disabilities of the arm, shoulder and hand score. Conclusions: This article offers valuable insights into diagnostics and potential reconstructive approaches for similar cases. The accompanying literature review further broadens the understanding of this rare clinical entity.