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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
Antoine Dumazet, Claire Launois, Sandra Dury, Frédéric Sailhan, Marco Alifano, Maxime Dewolf, François Lebargy, Gaëtan Deslee, Jeanne-Marie Perotin
RATIONALE: Hereditary multiple exostoses (HME) is a genetic musculoskeletal condition causing multiple exostoses. Rib location of exostosis can be complicated by thoracic injuries. PATIENT CONCERNS AND DIAGNOSES: We report a case of pneumothorax in a 32-year-old man with a partial left-sided pneumothorax caused by an exostosis of the fourth and fifth ribs. INTERVENTIONS AND OUTCOMES: Clinical and radiological presentations allowed a conservative management...
August 2018: Medicine (Baltimore)
Emmanuel Bukara, Alex M Buteera, Robert Karakire, Felix Manirakiza, Samuel Muhumuza, Emmanuel Rudakemwa, Lynnette Kyokunda
Introduction: Multiple hereditary exostoses (MHE) is a rare autosomal dominant disorder characterized by the presence of multiple skeletal deformities. They are painless slow-growing lesions. Malignant transformation tends to occur later in adulthood and has only been seen in 1-5% of patients. Objective: We describe the clinical, radiological, and pathological characteristics of a child with MHE who developed osteoblastic osteosarcoma beneath an osteochondroma. Case Presentation: An 11-year-old male Rwandan presented to our hospital with a two-week history of a dull persistent pain in his left distal femur and loss of weight and appetite...
2018: Case Reports in Orthopedics
Jhon Camacho, Luz Dary Gutierrez, Cladelis Rubio, Alfonso Suárez, Angie Amaya
Multiple hereditary exostoses (MHE) is a rare disease with autosomal dominant inheritance, caused by heterozygous germline mutations in the EXT1 or EXT2 genes. This disorder is characterized by the growth of prominences surrounded by cartilage in the growth plates and the long bones. Here, we report a family affected by MHE. In this family, a pathogenic variant c.544C > T (p. Arg182Ter) was identified in the EXT2 gene. This variant has been previously described in the literature, and here we are reporting the relationship with clinical findings...
September 2018: Journal of Pediatric Genetics
Mounira Khezami, Achraf Abdennadher, Hiba Bellaaj, Talel Znagui, Mounir Hamdi, Lotfi Nouisri
We conducted a retrospective study of 35 patients with subungual exostosis of the hallux, also known as Turrett's exostosis, in the Department of Orthopedics and Traumatology at the Senior Military Hospital of Instruction of Tunis over the period between 1995 and 2015. We here summarize the outcomes of patients treated for this disease. The average age of patients was 29 years, with a sex ratio of 1.7. The median consultation time was six months. This delay in consultation was caused by a diagnostic error due to clinical picture resemblance with ingrown nail...
2018: Pan African Medical Journal
P M Puttasiddaiah, S T Browning
BACKGROUND: External auditory canal exostoses are known to occur in patients who engage in cold-water sports. Although the majority of patients with exostosis remain asymptomatic, larger lesions can cause wax impaction, conductive hearing loss and predispose to recurrent otitis externa. OBJECTIVE: A novel technique is described of using a piezo saw to excise exostoses that are symptomatic. The piezo saw is used to perform various procedures, but its use in removing exostoses has not been described in the literature...
September 2018: Journal of Laryngology and Otology
Mandar Agashe, Avi Shah, Shital N Parikh
CASE: We report the case of a patient with a long-standing and progressive forearm deformity, secondary to underlying hereditary multiple exostoses (HME). A salvage surgery was performed with excision of the pathologic parts of the radius and the ulna, followed by the creation of a 1-bone forearm. CONCLUSION: One of the common manifestations of HME is forearm deformity due to abnormal ossification and osteochondromas that affect the radius and/or the ulna. Progressive deformity can lead to increasing pain, joint instability, limited motion, and functional decline...
July 25, 2018: JBJS Case Connector
Amin Abdel Razek Youssef Ahmed
Bony exostoses are benign osteocartilaginous growths that start close to growth plates. Approximately 30-60% of patients have forearm deformities. The commonly encountered forearm deformities in these patients are bowing of the radius, with or without ulnar drift of the carpus, radial head dislocation, shortening of the ulna, and radial head dislocation. The current study reported on the results of management of radial head dislocation for type IIb Masada and Oho classification of forearm deformities by Ilizarov ulnar lengthening and without tumor excision...
July 10, 2018: Journal of Pediatric Orthopedics. Part B
Zhonghua Chen, Qing Bi, Mingxiang Kong, Yu Chen
AIMS: Multiple exostoses (MO), also referred to as hereditary multiple exostoses (HME), is an autosomal dominant inherited skeletal disorder that has been found to be associated with mutations in the EXT1 and EXT2 genes. In the present study, we report a Chinese family with HME and undertake a mutational analysis of the EXT1 and EXT2 genes in affected and unaffected individuals. METHODS: All exons of the EXT1 and EXT2 genes in seven members of the family were polymerase chain reaction amplified from blood and sequenced...
July 10, 2018: Genetic Testing and Molecular Biomarkers
Dexter Kenneth Bateman, Howard Y Bar-Eli, Saum A Rahimi, John Andrew Bowe
Pseudoaneurysms adjacent to exostoses have been commonly reported in the femoral and popliteal arteries and only rarely in the upper extremity. We describe a case of an 18-year-old man with multiple hereditary exostoses who developed a brachial artery pseudoaneurysm after minor trauma to his right upper arm, adjacent to a known lesion. He was referred to a vascular surgeon who removed the pseudoaneurysm and repaired the artery with a saphenous vein graft. We encourage a high suspicion of vascular injury even after minor trauma when an osteochondroma is adjacent to a vascular structure...
June 27, 2018: BMJ Case Reports
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