• Yu-Jui Chang, Jih-Yang Ko, Jiunn-Ming Sheen, and Ka-Kit Siu.
• Department of Orthopaedic Surgery, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.
• Medicine (Baltimore). 2022 Jul 29; 101 (30): e29679e29679.

RationaleBlue rubber bleb nevus syndrome (BRBNS) is a rare condition with characteristic vascular malformations of the skin, most frequently lesions of the gastrointestinal tract and central nervous system, and less often, the musculoskeletal system. We report a 5-year case of BRBNS complicated with pathological femoral fracture that was successfully treated with sirolimus.Patient ConcernsWe report the case of a 1-week-old girl with a diagnosis of BRBNS who had multiple venous malformations over her body. She also presented with right lower-limb swelling and complicated with a pathological femoral fracture.DiagnosesBRBNS with the complication of pathological femoral fracture.InterventionsTreatment with low-dose sirolimus as an antiangiogenic agent was administered, combined with hip spica protection.OutcomesThe vascular lesion was reduced after about 6 months and the fracture site had healed around 2.5 years after initiation of sirolimus therapy. There were no drug adverse effects at the 5-year follow-up point. The patient showed excellent spirit and no obvious sequelae were found.LessonsTo the best of our knowledge, this is the first report of the successful use of sirolimus in a patient with a pathological femoral fracture related to BRBNS complications.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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