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Bilateral Scapulothoracic Osteochondromas in a Patient With Orthopedic Reviews 2016; volume 8:6501 Bilateral scapulothoracic rare disease. Since Boyer first described a family suffering from HME in 1814, epidemio- Correspondence: Markus Rupp, Department of osteochondromas in a patient logical studies generate the prevalence of the Trauma-, Hand- and Reconstructive Surgery, with hereditary multiple orphan disorder affecting at least one in University Hospital Giessen and Harburg, exostosis: a case report 50,000 people.1-4 Most often located in the Campus Giessen, Rudolf-Buchheim-Straße 7 proximal humerus, distal femur and proximal 35392 Giessen, Germany. and review of the literature tibia, cartilaginary exostoses arise from Tel: +49.170.388.1487. E-mail: [email protected] metapyhsal regions of enchondral growing 1,2 3 Key words: Osteochondroma; hereditary multiple Markus Rupp, Jendrik Hardes, 2,5,6 bones. Osteochondromas increase in size exostosis; scapulothoracic pain; malignant trans- Michael J. Raschke,2 Adrian Skwara4 throughout childhood and stop growing when formation; mesenchymal tumor. 1Department of Trauma-, Hand- and skeletal maturity is reached. Number and size Reconstructive Surgery, University of osteochondromas differ widely in individu- Contributions: MR and AS participated in the Hospital Giessen and Harburg, Campus als and families with known history of HME. design, performance and interpretation of the present manuscript. In addition, they participated 2 While mean numbers of locations in individu- Giessen; Department of Trauma-, Hand- in drafting and revising the manuscript. and Reconstructive Surgery, Muenster als suffering from HME differ between 6 to 18, Moreover, MR performed the patient education as University Hospital; 3Clinic for General osteochondromas usually occur either pedun- well as the physical examination. JH and MJR Orthopedics and Tumor Orthopedics, culated or are broad based around areas of provided administrative, technical and superviso- active bone growth.2,6 Although osteochondro- ry support. Furthermore, they participated in the Muenster University Hospital; mas are often clinically asymptomatic, symp- interpretation and revising the manuscript. 4Orthopedic Practice, Borken, Germany toms like pain and orthopedic deformities i.e. differences in bone length, forearm deformi- Conflict of interest: the authors declare no poten- tial conflict of interest. ties and varus-valgus malposition of the knee usually lead to the diagnosis of HME in the Received for publication: 9 March 2016. Abstract first decade of life.7 If growth and clinical Revision received: 30 July 2016. symptoms of osteochondromas newly appear Accepted for publication: 31 July 2016. Hereditary multiple exostosis (HME) is an in adults, malignant transformation of the usu- only autosomal dominant disorder characterized by ally benign growing tumors should be suspect- This work is licensed under a Creative Commons Attribution NonCommercial 4.0 License (CC BY- two or more benign growing, cartilage capped ed. In up to 8% the malignant degeneration to NC 4.0). tumors of long bones called osteochondromas. chondrosarcoma is described.8 Thus, regular If abnormal growth and clinical symptoms of monitoring and, if malignant tumor usegrowth is ©Copyright M. Rupp et al., 2016 osteochondromas newly appear in adults, diagnosed, surgical treatment of patients suf- Licensee PAGEPress, Italy malignant transformation of the usually fering from HME is necessary.8,9 Against the Orthopedic Reviews 2016;8:6501 benign growing tumors should be suspected background of hypothesis that severely affect- doi:10.4081/or.2016.6501 and diagnostic testing should be initiated. ed patients with HME are associated with pal- Against the background of hypothesized high- pable shoulder exostoses, we report for the er malignant transformation of osteochondro- first time a coincidentally found bilateral for- mation. This resulted in the movement impair- mas into chondrosarcoma in individuals with mation of osteochondromas in the scapulotho- ment of both, elevation and anteversion of the shoulder exostoses, we report a case of bilater- racic spaces in a patient suffering from HME.10 left upper extremity up to 90 degrees. The al scapulothoracic osteochondromas in a Hitherto, no case of bilateral osteochondromas patient also had a positive family history shar- patient suffering from HME. A 60-year-old arising from the scapula forming a scapulotho- ing HME with her father and daughter. female with HME complained of chest pain racic neojoint is described in the literature. After open reduction and internal plate fixa- while being hospitalized for bilateral femoral commercial tion of both femoral fractures the patient was fractures. A computed tomography scan of the mobilized in our surgical ward. Weight bearing chest was performed to rule out pulmonary restrictions were imposed for 12 weeks postop- embolism. However, bilateral osteochondro- Case Report eratively. To prevent thrombosis the current mas in the scapulothoracic spaces were detect- standard-of-care therapy with enoxaparine 40 ed. Due to absence of radiographicNon evidences A 60-year-old woman suffering from heredi- mg per day was administered to the patient. for malignant transformation in the patient, tary multiple exostosis was referred to our During the postoperative treatment the patient invasive diagnostic procedures such as biopsy clinic with bilateral femoral shaft fractures showed typical symptoms of pulmonary and histological examination were recom- after falling on ground out of a wheelchair. embolism as described by Hunt and Bull.11 mended in order to exclude malignant trans- Due to an osteochondroma in the cervical As further diagnostics a computed tomogra- formation of both osteochondromas. spinal canal resulting in paraplegia of the phy (CT) (Siemens Somatom Definition Physicians should be aware that patients with lower extremities, the patient was already System, Siemens Medical Solutions, Forchheim, HME who present with shoulder pain should bound to the wheelchair for more than 20 Germany) was performed. CT parameters were be examined for osteochondromas in the years. Thus, sedentary osteoporosis of the 60- as follows: detector collimation 40×0.6 mm, scapulothoracic space. Due to possible sarco- year-old lady most likely resulted in the bilater- pitch 1.3, rotation time 0.5 s, slice thickness 2 matous transformation, regular follow-ups are al femoral fracture after inadequate trauma in mm and tube voltage 120 kV. Online tube current necessary for adolescents and adults. home environment. Besides suffering from a modulation was employed to reduce patient cervical spine osteochondroma resulting in dose. Despite of no evidence for pulmonary paraplegia of the lower extremities, cartilagi- embolism, bilateral osteochondromas arising nary exostosis around both knees and the left from both shoulder blades forming a neojoint in Introduction proximal humerus were also reported. In 1976 the scapulothoracic space were detected a resection of the humeral cartilaginary exos- (Figures 1 and 2). Interestingly the patient also Hereditary multiple exostosis (HME) is a tosis was performed due to malignant transfor- showed no signs of malignant growth. In addi- [Orthopedic Reviews 2016; 8:6501] [page 85] Case Report tion, neither cortical destruction, moth-eaten thesis of HSPGs is in turn a regulatory process and permeative osteolysis, nor endosteal scallop- Discussion for signal cascades influencing differentiation ing was detected. After recognition of this rare and apoptosis of chondrocytes.18,19 Because finding, the upper extremity of the patient was The existence of a variety of synonyms, in development of HME mainly occurs due to lack examined in detail. Compared to normal anato- relation to the primarily benign tumor forming of EXT1, EXT2 or EXT3 genes, EXT genes are my a bilateral prominence was marginally visi- disease, indicates a diverse research interest. designated as tumor suppressor genes.20 ble, which was well palpable on both sides above Multiple hereditary osteochondromas, multiple However, up to 10-25% HME cases manifests the scapula body. Range of motion of the right osteochondromatosis, multiple cartilaginous in families without known history of HME shoulder was not impaired, whereas the move- exostosis, multiple osteochondromatosis, caused by new mutations (de novo mutation). ment of the left shoulder was impaired for more familial exostosis and Bessel-Hagen disease Moreover, manifestation of HME seems to be than 30 years as described above. Pressure pain are the most common.2,7 Although 200 years higher in males (male to female ratio: 1.5:1). or movement pain along with motor and sensi- have elapsed since its first description as Despite limited information to support EXT ble deficits were absent during physical exami- hereditary disease, the origin of HME was not gene penetrance in female subjects, no differ- nation. While hospitalized due to bilateral discovered until the 1990s. Studies could show ence in penetrance due to sex is described as femoral fractures pain management and patient a lack of EXT1 and EXT2 genes causes HME.12- well.1,2,7,20-22 While individuals with a mutation positioning were optimized thereby resulting in 15 Later loss of function of the EXT3 gene was in the EXT1 gene are reported to be more relief of the symptoms. In context with the also identified to be associated with multiple severely affected by HME, the manifestation of detected bilateral scapulothoracic osteochondro- osteochondromatosis.16 Different kinds of shoulder
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