СОВРЕМЕННЫЙ ВЗГЛЯД НА МНОЖЕСТВЕННУЮ ЭКЗОСТОЗНУЮ ХОНДРОДИСПЛАЗИЮ (ОБЗОР ЛИТЕРАТУРЫ, КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ)

E.A. Sotnikova; M.S. Levina; E.A. Savaley; O.N. Kiseleva; O.F. Pozdnyakova; Yu.V. Tashchilkina; A.M. Sergeev

doi:10.56871/ViM.2025.74.84.004

E.A. Sotnikova Saint Petersburg State Pediatric Medical University. 2 Lithuania, Saint Petersburg 194100 Russian Federation https://orcid.org/0009-0006-3392-3129
M.S. Levina Saint Petersburg State Pediatric Medical University. 2 Lithuania, Saint Petersburg 194100 Russian Federation
E.A. Savaley Saint Petersburg State Pediatric Medical University. 2 Lithuania, Saint Petersburg 194100 Russian Federation
O.N. Kiseleva Saint Petersburg State Pediatric Medical University. 2 Lithuania, Saint Petersburg 194100 Russian Federation
O.F. Pozdnyakova Saint Petersburg State Pediatric Medical University. 2 Lithuania, Saint Petersburg 194100 Russian Federation
Yu.V. Tashchilkina Saint Petersburg State Pediatric Medical University. 2 Lithuania, Saint Petersburg 194100 Russian Federation
A.M. Sergeev Saint Petersburg State Pediatric Medical University. 2 Lithuania, Saint Petersburg 194100 Russian Federation

DOI: https://doi.org/10.56871/ViM.2025.74.84.004

Keywords: hereditary multiple exostoses, osteochondroma, osteochondral exostosis, exostosin-1, EXT-1, exostosin-2, EXT-2, heparansulfate, bone deformities

Abstract

Hereditary multiple exostoses (HME) is a relatively rare hereditary disorder characterized by the formation of multiple osteochondromas. HME has an autosomal dominant inheritance pattern and is characterized by variable expressivity, which leads to significant differences in clinical manifestations. Most often, HME is caused by mutations in the exostosin-1 (EXT-1) and exostosin-2 (EXT-2) genes, which play an important role in the synthesis of heparan sulfate (HS), which is involved in the regulation of bone and cartilage tissue formation. A defect in the synthesis of HS leads to disruption of normal bone growth, which is manifested by the development of osteochondromas — benign osteochondral formations that occur mainly in the area of long tubular bones, especially in the metaphyseal zones. Although HME may be asymptomatic, patients with this disease experience a wide range of clinical manifestations. Symptoms range from localized pain caused by the pressure of the tumor on surrounding tissues to severe bone deformities and functional disorders. Skeletal deformities may lead to shortening of the limbs, poor posture, limited joint mobility, and compression of vascular and nerve structures. One of the most dangerous complications of HME is the malignant transformation of osteochondroma into secondary chondrosarcoma (1–5% cases). The therapeutic approach to HME consists of dynamic observation and surgical resection if indicated. In recent years, studies have been conducted on the possible use of targeted therapy aimed at correcting impaired heparan sulfate metabolism, but the clinical application of such methods is still at the study stage. The aim of this article is to review updated data regarding the epidemiology, pathogenesis, clinical presentation, imaging modalities, treatment options, and prognosis of HME.

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MODERN VIEW ON HEREDITARY MULTIPLE EXOSTOSES (LITERATURE REVIEW, CASE REPORT)

Abstract

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