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Avraam Ploumis, Andreas Liampas, Michail Angelidis, Areti Theodorou, Vasilios Xydis, Ioannis Gelalis, Peter Zampakis, Vasilios Panagiotopoulos
Background: Hereditary multiple exostoses (HME) is an inherited genetic condition, characterized by the formation of multiple osteochondromas, developing throughout childhood and into puberty. Vascular complications associated with HME are uncommon. Methods: A case of a patient with HME who was admitted to hospital with subarachnoid hemorrhage (SAH), as a result of acute rupture of a basilar tip aneurysm (BTA), will be presented. Relevant literature on this topic will be systematically reviewed...
November 2018: Journal of Vascular and Interventional Neurology
Yuchan Li, Bingqiang Han, Jingyan Tang, Mu Chen, Zhigang Wang
The forearm deformity classified by Masada is a characteristic trait of patients with hereditary multiple exostoses (HME). Ulnar gradual lengthening, which was considered to be a safe and reliable procedure, was popular in treating these difficult deformities, however, delayed consolidation of the callus is uncommon but not rare in literature review. The purpose of this study was to try to identify the risk factors influencing bone healing in gradual ulnar lengthening in HME.We retrospectively reviewed patients with HME-induced forearm deformity who underwent gradual ulnar lengthening at our hospital from 2010 to 2016...
February 2019: Medicine (Baltimore)
Ana Oljaca, Daniela Hirzberger, Marko Bergovec, Kurt Tiesenhausen, Stephan H Koter, Joerg Friesenbichler, Christian Viertler, Andreas Leithner
Osteochondromas rarely induce vascular complications by mechanical compression. We present the case of a subclavian artery pseudoaneursym caused by an osteochondroma of the scapula in a 67-year-old male. The diagnosis was based on a previous history of multiple exostoses, computed tomography and magnetic resonance imaging, as well as the local vascular clinical status of the lesion. Surgical treatment consisted of vascular and orthopaedic intervention. First, the vascular surgeon implanted a bypass of the subclavian artery from the ventral aspect, enabling the orthopaedic surgeon to resect the osteochondroma from the dorsal aspect...
2019: SAGE Open Medical Case Reports
Xiaoyan Guo, Mingrui Lin, Wei Yan, Wenxu Chen, Guolin Hong
The molecular mechanism of hereditary multiple exostoses (HME) remains ambiguous and a limited number of studies have investigated the pathogenic mechanism of mutations in patients with HME. In the present study, a novel heterozygous splice mutation (c.1284+2del) in exostosin glycosyltransferase 1 (EXT1) gene was identified in a three‑generation family with HME. Bioinformatics and TA clone‑sequencing indicated that the splice site mutation would result in exon 4 skipping. Reverse transcription‑quantitative polymerase chain reaction (RT‑qPCR) revealed that the expression levels of wild‑type EXT1/EXT2 mRNA in patients with HME were significantly decreased, compared with normal control participants (P<0...
January 16, 2019: International Journal of Oncology
Luisa Limongelli, Angela Tempesta, Saverio Capodiferro, Eugenio Maiorano, Gianfranco Favia
Oral maxillary exostoses are proliferating bone lesions with an unknown etiology occurring on the cortical plates both in the maxilla and in the mandible of young individuals, showing a typical slow but continuous enlargement. No treatment is usually required unless they create esthetic or functional limitations during follow-up; the biopsy is needed only for doubtful lesions. Furthermore, it is mandatory to collect an accurate familiar history of patients affected by exostosis, especially when occurring with atypical clinical presentation, in order to exclude or prevent potentially associated systemic diseases...
January 2019: Clinical Case Reports
Li Fei, Clara Ngoh, Daniel E Porter
Background: The most serious complication of hereditary multiple exostoses(HME) is chondrosarcoma transformation. Numerous authors have suggested that screening might allow early chondrosarcoma detection. However, literature-quoted incidences of malignant transformation are highly variable. Methods: A systematic review of malignant transformation by sex, exostosin-1 mutation(EXT1), age and site was conducted searching Medline, Embase and CINHAL. Three HME screening strategies were then developed and compared using cost per life-year gained and incremental cost-effectiveness ratio (ICER)...
November 2018: Journal of Bone Oncology
Nicole E Smith-Guzmán, Richard G Cooke
OBJECTIVES: The appearance of external auditory exostoses archaeologically has been attributed to aquatic activities in middle latitudes. However, recent clinical research implicates low sea surface temperatures, especially below a threshold of 19°C, as a stronger predictor of ear exostosis development than latitude. Here, we examine the frequency of external auditory exostoses in human remains from nine pre-Columbian archaeological sites in Panama, representing individuals from a warm, tropical region...
December 21, 2018: American Journal of Physical Anthropology
A Santoso, P Utomo, C J Im, K S Park, T R Yoon
Hip geometry abnormalities found in patients with hereditary multiple exostoses (HME) could promote premature hip joint degeneration which needs treatment. We report the case of a 45-year old male with right hip arthrosis who underwent two-incision minimally invasive (MIS-2) total hip arthroplasty (THA), with satisfactory outcome. This technique could be an alternative approach for performing THA in patients with hereditary multiple exostoses.
November 2018: Malaysian Orthopaedic Journal
Weijuan Su, Xiulin Shi, Mingzhu Lin, Caoxin Huang, Liying Wang, Haiqu Song, Yanzhen Zhuang, Haifang Zhang, Nanzhu Li, Xuejun Li
BACKGROUND: Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial and skeletal abnormalities, while non-ossifying fibroma (NOF) is a common benign bone tumour in children and adolescents. To date, no case of TRPS coexisting with NOF has been reported. This report presents a 12-year-old girl who had the characteristic features of tricho-rhino-phalangeal syndrome and non-ossifying fibroma with a fibula fracture. CASE PRESENTATION: A 12-year-old girl was admitted to the Department of Endocrinology and Diabetes for evaluation of brachydactyly and a right fibula fracture...
December 12, 2018: BMC Medical Genetics
Maile E Curbo, Kwan J Park, Landon D Brown, Stephen J Incavo
Nail-patella syndrome (NPS) or hereditary onycho-osteodyaplasia is a rare genetic condition involving a mutation in the LMX1B gene affecting nails, elbows, knees, and pelvis. Due to the regulatory functions of the gene in many developmental processes through the body, patients with NPS experience wide-ranging musculoskeletal problems including patellar instability, fingernail anomalies, iliac exostoses/horns, and elbow abnormalities. The patellar changes often involve aplasia, hypoplasia, and chronic dislocation...
November 29, 2018: Knee
Kohei Hamanaka, Yuji Sugawara, Takeyoshi Shimoji, Tone Irene Nordtveit, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Toshimitsu Suzuki, Kazuhiro Yamakawa, Ingvild Aukrust, Gunnar Houge, Satomi Mitsuhashi, Atsushi Takata, Kazuhiro Iwama, Ahmed Alkanaq, Atsushi Fujita, Eri Imagawa, Takeshi Mizuguchi, Noriko Miyake, Satoko Miyatake, Naomichi Matsumoto
Potocki-Shaffer syndrome (PSS) is a contiguous gene syndrome caused by 11p11.2 deletions. PSS is clinically characterized by intellectual disability, craniofacial anomalies, enlarged parietal foramina, and multiple exostoses. PSS occasionally shows autism spectrum disorder, epilepsy, and overgrowth. Some of the clinical features are thought to be associated with haploinsufficiency of two genes in the 11p11.2 region; variants affecting the function of ALX4 cause enlarged parietal foramina and EXT2 lead to multiple exostoses...
November 28, 2018: European Journal of Human Genetics: EJHG
Paul B Heyworth, Muddassir Rashid
Osteochondromas are bone exostoses, with the vast majority extending from the metaphyseal region of long bones and are capped by cartilage. A review of the current literature reveals spontaneous regression of osteochondromas is a rarely documented event, with all but two of these recorded events resolving before skeletal maturity and within 6 years of identification. We present a case of trauma-induced resolution of a solitary osteochondroma after less than 3 months in a 15-month-old male, with a review of current literature...
February 2019: Radiology Case Reports
Grigorios Thermos, Eleni-Marina Kalogirou, Konstantinos I Tosios, Alexandra Sklavounou
OBJECTIVE: Oral ulceration with bone sequestration (OUBS) describes a site-specific intraoral ulcer that covers exposed, non-vital bone in patients lacking any etiological factor known to induce osteonecrosis. We aimed to conduct a retrospective study of eight new cases of OUBS and review the literature. SUBJECTS AND METHODS: This is a retrospective study of OUBS cases, diagnosed and managed during 2007-2017. Inclusion criteria were the presence of oral ulcer with exposed non-vital bone at sites of bony prominence and the absence of any factor known to cause osteonecrosis...
November 1, 2018: Oral Diseases
Stefan K Plontke, Marie-Luise Metasch, Jonas Zirkler, Thomas Zahnert
After approximately 100 years of development and stepwise improvement, stapes surgery is a succesful strategy of managing hearing loss in otosclerosis, although challanges remain. Contraindications include too poor speech understanding (not enough inner ear reserve), and acute or chronic inflammation of the external ear and middle ear. Stapes surgery in the last hearing ear can today be indicated in exceptional cases, especially if the contralateral ear was supplied with a cochlear implant. In case of simultaneous occurrence of pronounced external auditory canal exostoses, a staged procedure may be useful...
October 2018: Laryngo- Rhino- Otologie
Nagihan Koç, Leyla Berna Çağırankaya
Mandibular tori are associated with mandibular bone quality: a case-control study Running title: Tori and mandibular bone quality Nagihan Koç, Leyla Berna Çağırankaya Department of Oral and Maxillofacial Radiology, Faculty of Dentistry, Hacettepe University, Sihhiye, Ankara, Turkey ADDRESS FOR CORRESPONDENCE: Nagihan Koç, Department of Oral and Maxillofacial Radiology, Faculty of Dentistry, Hacettepe University, Sihhiye, 06230 Ankara, Turkey, tel: 90-312-305-22-05, fax: 90-312-310-44-40, e-mail: nagihan...
October 12, 2018: Folia Morphologica (Warsz)
Mattia Gentile, Emanuele Agolini, Dario Cocciadiferro, Romina Ficarella, Emanuela Ponzi, Emanuele Bellacchio, Maria F Antonucci, Antonio Novelli
Biallelic exostosin-2 (EXT2) pathogenic variants have been described as the cause of the Seizures-Scoliosis-Macrocephaly syndrome (OMIM 616682) characterized by intellectual disability, facial dysmorphisms and seizures. More recently, it has been proposed to rename this disorder with the acronym AREXT2 (autosomal recessive EXT2-related syndrome). Here, we report the third family affected by AREXT2 syndrome, harboring compound missense variants in EXT2, p.Asp227Asn, and p.Tyr608Cys. In addition, our patients developed multiple exostoses, which were not observed in the previously described families...
October 4, 2018: Clinical Genetics
Samer Alhames, Khaldoun Almhanna
Background: Osteochondromas are the most common tumors of the long bones in children. Osteochondromas can rarely be seen in the chest wall and they are usually diagnosed at a young age. They can be sporadic or part of the hereditary multiple exostoses. Case presentation: We report a 12-year-old boy, who presented with a hard and large mass in the chest wall. The mass grew slowly after the original resection. Diagnosis and treatment were delayed because of the war...
September 2018: Journal of Surgical Case Reports
Christos Argyriou, Georgios Drosos, Stylianos Tottas, Kalliopi-Maria Tasopoulou, Ioannis Kougioumtzis, George S Georgiadis
BACKGROUND: Osteochondromas or exostoses are the most common benign tumors of the bones, which appear during the growth period. The involvement of lower extremities is common, particularly in metaphyseal structures of the femur and humerus and around the knee joint. However, the incidence of the development of the tumor at the proximal fibula is rare. The most common signs and symptoms of the disease are pain, pulsatile mass, limb swelling, neurologic sequelae, bursa formation with subsequent bursitis, and impairment of the developmental growth...
September 12, 2018: Annals of Vascular Surgery
Riccardo D'Ambrosi, Camilla Caldarini, Vincenza Ragone, Renato Mario Facchini
Objective: The purpose of this clinical case-control study was to assess the level of sports activity in children with hereditary multiple exostoses (HME) and to compare with the degree of physical activity in children of the same age without pathology. Methods: A case-control study was designed. Cases were drawn from children with HME diagnosed on the basis of clinical and radiographic evaluation with an age less then 12 years. Controls were chosen from a group of children with the same age and a negative family history for HME...
December 2018: Journal of Orthopaedics
Samuel A Fernandez-Perez, Julio A Rodriguez, David Beaton-Comulada, Roberto G Colon-Miranda, Antonio H Soler-Salas, Antonio Otero-Lopez
We present a case report of a patient with severe valgus deformity of the right knee due to multiple hereditary exostoses (MHEs) treated with total knee arthroplasty (TKA). The surgical management of MHE affecting the knee encompasses exostoses resection, joint deformity rectification, and limb-length discrepancy alignment. On rare occasions, distraction osteogenesis and TKA have been used to correct valgus deformities of the knee. TKA in MHE patients with knee involvement has only been described in 6 cases...
September 2018: Arthroplasty Today
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