Fibro-adipose vascular anomaly in an adolescent: a case report

Fibro-adipose vascular anomaly is a relatively rare and only recently described disorder with distinctive clinical, radiological, and pathomorphological features. It is crucial for physicians to be fully aware of this condition to ensure timely diagnosis and early initiation of treatment. This article presents the clinical case of a 17-year-old female with fibro-adipose vascular anomaly of the right leg. At the age of 7, she developed a painful lesion in the leg. Over time, the lesion progressively increased in size, accompanied by limb hypotrophy and restricted ankle joint mobility. At the healthcare facility of her place of residence, multiple ultrasound examinations and computed tomography angiography were performed, which led to the diagnosis of mixed angiodysplasia of the right leg. Conservative measures, including physical therapy, compression garments, and orthopedic footwear, were ineffective. Disability was established at the age of 13. At 17, the patient was admitted to the Russian Children’s Clinical Hospital (Moscow). Examination revealed shortening of the right leg and foot, a firm painful mass in the upper third of the leg, hypotrophy of the thigh and calf muscles, and ankle contracture. Ultrasound examination revealed a hyperechoic lesion with indistinct outer margins in the muscles of the upper third of the leg, containing abnormally formed venous vessels with multiple phleboliths. Magnetic resonance imaging of this area confirmed the presence of vascular malformation. Angiography was additionally performed to clarify the angioarchitecture of the lesion and determine the possible extent of resection, leading to the diagnosis Q27.8—fibro-adipose vascular anomaly of the right leg. Given the impossibility of radical surgery due to subtotal involvement of the posterior muscle group of leg, the high risk of progression, pain, and impaired function, anti-proliferative therapy with sirolimus was initiated. Rehospitalization was scheduled after one year to assess treatment efficacy and reconsider surgical options. This case illustrates the challenges of delayed diagnosis, where long-term unrecognized disease progression resulted in disability and precluded one-stage radical treatment.