Abstract. Hereditary multiple osteochondromas (HMO) isan autosomal dominant bone disorder characterised by the presence of multiple benign cartilage-capped tumours. Exostosin-1 (EXT1) and EXT2 are the major morbigenous genes associated with HMO, mutations in which are responsible for 90% of all HMO cases. In patients with HMO, osteochondromas arise adjacent to the metaphysis and typically remain in the metaphyseal region of the long bones. Therefore, it is rare for osteochondromas to be identified intra-articularly, although they may manifest as loose bodies. The present study describes a rare case of HMO manifesting as limited flexing range in the right knee joint of a 27-year-old male patient. Computed tomography and magnetic resonance imaging (MRI) revealed three intra-articular osteochondromas located in the intercondylar fossa of the patient's right knee. The intra-articular osteochondromas and protuberant extra-articular osteochondromas around the right knee were resected, resulting in improved right knee function and no postoperative recurrence. Pathological analysis revealed that the intra-articular osteochondromas had a thinner cartilage cap layer than the extra-articular osteochondromas. In addition, genetic analysis of the patient and the patient's mother was conducted. From this, it was determined that a nonsense mutation, c.115G>T (p.E39X) in exon 1 of the EXT1 gene, was the cause of HMO in this case. Thus, it is proposed that osteochondromas with a pedicle within the knee, may tear and become loose intra-articular bodies, resulting in limited joint function and thereby contributing to the progression of HMO.
IntroductionOsteochondromas, also termed osteocartilaginous exostoses, comprise the majority of bone tumours in the human skeleton. These tumours are benign osseous growths that are capped with hyaline cartilage (1). Solitary osteochondromas develop in a single bone and are not hereditary. By contrast, multiple osteochondromas, also known as hereditary multiple osteochondromas (HMO), result from an autosomal dominant disorder characterised by the abundant proliferation of exostoses (2). Genetic studies have identified an association between HMO and three loci: i) Exostosin-1 (EXT1) (3), which maps to chromosome 8q24.1; ii) EXT2 (4), which maps to chromosome 11p13; and iii) EXT3 (5), which is located on the short arm of chromosome 19 (the exact position has yet to be mapped). It has been estimated that half of all patients with HMO have EXT1 mutations, while one-third have EXT2 mutations (6).Multiple osteochondromas typically increase in size and number during childhood and adolescence. Although these tumours primarily develop at the juxta-epiphyseal region of the long bones, they can occur on nearly every bone of the skeleton, including short bones, flat bones and irregular bones (7). Patients with HMO are generally asymptomatic, unless the osteochondroma exerts pressure on adjacent muscles, tendons, nerves or blood vessels (8). The clinical presentation is commonly associated with this effect,...