Fibro-Adiposis Vascular Anomaly in an Adolescent: A Case Report

Fibroadiposis vascular anomaly is a relatively rare and only recently described disease with distinctive clinical, radiological and pathomorphological characteristics. It is extremely important for physicians to have a complete understanding of fibroadiposis vascular anomaly to ensure timely diagnosis and early treatment. A girl at the age of 7 developed a painful mass on her shin. Over time, the mass increased in size, limb hypotrophy progressed along with limited movement in the ankle joint. At the place of residence, ultrasound examination and computed angiography were repeatedly performed, the diagnosis of "mixed angiodysplasia of the right shin" was established. Treatment in the form of therapeutic exercise, wearing compression knitwear and orthopedic shoes did not bring any effect. At the age of 13, the girl was declared disabled. The girl was admitted to the Russian Children's Clinical Hospital at the age of 17. On examination, shortening of the right lower limb and foot, a dense painful formation in the upper third of the shin, hypotrophy of the thigh and shin muscles, and contracture of the right ankle joint were noted. Ultrasound examination revealed a hyperechoic formation with fuzzy external contours in the muscles of the upper third of the shin with the location of abnormally formed venous vessels with multiple phleboliths in it. Magnetic resonance imaging data in this area confirmed signs of vascular malformation. In order to clarify the angioarchitecture of the lesion and determine the possible extent of resection, angiography was additionally performed, which made it possible to establish the diagnosis: Q27.8 - fibrous-adipose vascular anomaly of the right shin. Considering the impossibility of radical surgical treatment due to subtotal damage to the posterior group of shin muscles, a high risk of disease progression, pain syndrome with impaired limb function, antiproliferative therapy with sirolimus was started. Repeated hospitalization to assess its effectiveness and decide on surgical treatment is scheduled in 1 year. The purpose of this article is to describe a case of difficult late diagnosis of the disease, when its long unrecognized course led to the patient's disability and made one-stage radical treatment impossible.