Bilateral scapulothoracic osteochondromas in a patient with hereditary multiple exostosis: a case report and review of the literature

Abstract

Hereditary multiple exostosis (HME) is an autosomal dominant disorder characterized by two or more benign growing, cartilage capped tumors of long bones called osteochondromas. If abnormal growth and clinical symptoms of osteochondromas newly appear in adults, malignant transformation of the usually benign growing tumors should be suspected and diagnostic testing should be initiated. Against the background of hypothesized higher malignant transformation of osteochondromas into chondrosarcoma in individuals with shoulder exostoses, we report a case of bilateral scapulothoracic osteochondromas in a patient suffering from HME. A 60-year-old female with HME complained of chest pain while being hospitalized for bilateral femoral fractures. A computed tomography scan of the chest was performed to rule out pulmonary embolism. However, bilateral osteochondromas in the scapulothoracic spaces were detected. Due to absence of radiographic evidences for malignant transformation in the patient, invasive diagnostic procedures such as biopsy and histological examination were recommended in order to exclude malignant transformation of both osteochondromas. Physicians should be aware that patients with HME who present with shoulder pain should be examined for osteochondromas in the scapulothoracic space. Due to possible sarcomatous transformation, regular follow-ups are necessary for adolescents and adults.

An unusual example of hereditary multiple exostoses: a case report and review of the literature

“…The most common site of osteochondromas in HME is the knee, with reports as high as 94% of sufferers having a knee exostosis [ 19 ]. These can either be in the distal femur which occurs 90% of the time [ 2 ], the proximal tibia or proximal fibula which have osteochondromas in 84 and 76% of HME cases respectively [ 2 ].…”

“…They can often lead to poor elbow function and chronic pain [ 21 ]. The proximal radius and ulna are involved in 37 and 38% of cases respectively while an exostosis in the distal ulna has been reported in 80% of cases [ 19 ]. These forearm deformities have recently been reclassified into 4 groups by Jo et al [ 22 ] from the long standing 3 categories proposed by Masada et al [ 23 ].…”

“…The consequences of exostoses in the scapulae can range from crepitus, pseudo winging of the scapula and weakness with reduced muscle mass of the pectoral girdle muscles [ 25 ]. Having an exostosis in the shoulder is an indication for an increased rate of malignant change with some reporting as high as 43%, however, this is likely due to both being associated with mutations in EXT-1 [ 19 ].…”

“…Indeed Mazza et al [ 26 ] found asymptomatic tumours in the ribs during investigations into symptomatic growths. Rib exostoses can be dangerous given their location to thoracic organs, complications include spontaneous haemothorax, pneumothorax and extrinsic coronary compression [ 19 ]. This case also details the presence of a sternal osteochondroma which, to our knowledge, have not been previously described.…”

Bilateral scapular osteochondroma in Multiple Hereditary Exostosis patient presented with bilateral shoulder pain treated with arthroscopic and open excision: Case report

“…Symptoms are directly correlated with the size of osteochondroma and it is related to mass effect which includes pain explained by fracture, bursa formation or impingement of tendons or nerves [ 7 ]. Classically open excision is the treatment option for symptomatic osteochondroma, but recently multiple papers described the arthroscopic excision of scapular exostosis [ 3 , [8] , [9] , [10] ] To best of our knowledge two papers in literature described bilateral scapular osteochondroma treated with excision [ 11 , 12 ]. We describe in this paper 24 year-old male who is known case of Multiple Hereditary Exostosis (MHE) since childhood presented with bilateral shoulder pain and snapping scapula, one side treated with open excision and other side with arthroscopic excision.…”