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https://www.readbyqxmd.com/read/30105120/multiple-hereditary-exostoses-report-of-an-ext2-gene-mutation-in-a-colombian-family
#1
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
https://www.readbyqxmd.com/read/30100982/-turrett-s-exostoses-about-35-casesk
#2
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
https://www.readbyqxmd.com/read/30099978/removal-of-external-ear-canal-exostoses-by-piezo-surgery-a-novel-technique
#3
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...
August 13, 2018: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/30045076/a-rare-presentation-and-management-of-forearm-deformity-in-a-patient-with-hereditary-multiple-exostoses-a-case-report
#4
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
https://www.readbyqxmd.com/read/29995654/gradual-ulnar-lengthening-by-an-ilizarov-ring-fixator-for-correction-of-masada-iib-forearm-deformity-without-tumor-excision-in-hereditary-multiple-exostosis-preliminary-results
#5
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
https://www.readbyqxmd.com/read/29989442/a-novel-ext1-mutation-identified-in-a-family-with-multiple-osteochondromas
#6
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
https://www.readbyqxmd.com/read/29950361/post-traumatic-pseudoaneurysm-of-brachial-artery-in-multiple-hereditary-exostoses
#7
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
https://www.readbyqxmd.com/read/29849851/surfer-s-exostosis-in-a-child-who-does-not-surf
#8
Michael Paddock, Kimberley Lau, Ashok Raghavan, Aikaterini Dritsoula
Surfer's exostoses are more commonly seen in adults who frequently participate in aquatic activities with repeated exposed to cold water and wind. However, this entity has not been previously reported in the pediatric population. Most patients can be managed conservatively, particularly considering that surgical removal of external auditory canal exostosis can be challenging.
June 2018: Radiology Case Reports
https://www.readbyqxmd.com/read/29787853/false-aneurysm-of-the-popliteal-artery-complicated-by-a-deep-venous-thrombosis-revealing-an-exostosis-in-a-20-year-old-woman
#9
Tarik Bakkali, Mohamed Hormatallah, Ayoub Bounssir, Nabil Aghtoutane, Hamza Taous, Redouane Idrissi, Yasser Sefiani, Brahim Lekhel, Abbes Mesnaoui, Younes Bensaid
Exostoses or osteochondromas are benign osseous tumors that develop on the bone surface and can be sporadic or hereditary. Their evolution is generally benign, but they may be complicated in some patients by conflicts with the surrounding nervous or vascular structures, in particular arteries. We report a case of false aneurysm of the popliteal artery secondary to an isolated exostosis of the left femur in a 20-year-old woman. A delay in the diagnosis allowed the development of the false aneurysm, which was at the origin of a major venous compression...
May 19, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29783013/multiple-hereditary-exostoses-with-tetraparesis-due-to-cervical-spine-osteochondroma
#10
Ali Akhaddar, Mohamed Zyani, Issam Rharrassi
This is a case report of a 34-year-old man with hereditary multiple exostoses who presented with gradual tetraparesis. Neuroimaging evaluation revealed an important posterior spinal cord compression by a C3 bony formation. Following posterior microsurgical decompression, the patient recovered nearly completely. Histopathologic examination of the intraspinal lesion confirmed the diagnosis of benign osteochondroma. The patient returned to a normal life without evidence of recurrence at 2-year follow-up.
August 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29700203/multiple-roles-of-epithelial-heparan-sulfate-in-stomach-morphogenesis
#11
Meina Huang, Hua He, Tatyana Belenkaya, Xinhua Lin
Heparan sulfate proteoglycans (HSPGs) have been shown to regulate various developmental processes. However, the function of heparan sulfate (HS) during the development of mammalian stomach has not been characterized yet. Here, we investigate the role of epithelial HS in embryonic stomach by examining mice deficient in the glycosyltransferase gene Ext1 We show that HS exhibits a specific and dynamic expression pattern in mouse embryonic stomach. Depletion of the epithelial HS leads to stomach hypoplasia, with phenotypic differences in the gastric mucosa between the forestomach and hindstomach...
May 29, 2018: Journal of Cell Science
https://www.readbyqxmd.com/read/29679229/compromised-alveolar-bone-cells-in-a-patient-with-dentinogenesis-imperfecta-caused-by-dspp-mutation
#12
Thantrira Porntaveetus, Nunthawan Nowwarote, Thanaphum Osathanon, Thanakorn Theerapanon, Prasit Pavasant, Lawan Boonprakong, Kittisak Sanon, Sirivimol Srisawasdi, Kanya Suphapeetiporn, Vorasuk Shotelersuk
OBJECTIVES: Dentin sialophosphoprotein (DSPP) plays an important role in the mineralization of both dentin and bones. The Dspp null mice developed periodontal diseases. Patients with DSPP mutations have dentinogenesis imperfecta (DGI), but very little is known about their bone characteristics. This study aims to characterize alveolar bone cells of a DGI patient with DSPP mutation. MATERIALS AND METHODS: Pathogenic variants were identified by whole exome and sanger sequencing...
April 20, 2018: Clinical Oral Investigations
https://www.readbyqxmd.com/read/29629231/internal-auditory-canal-exostosis-a-technical-case-report
#13
Lynn Mubita, Michael Seidman, Jack Rock
Background: Exostoses of the internal auditory canal is a rare finding that may present with disabling symptoms of dizziness, hearing loss, and vestibular dysfunction based on the extent of cranial nerve compression. The purpose of this case report is to discuss the presentation and outcomes in a patient who presented with this disorder. Case Description: A 19-year-old female presented to the neurotologist with left ear discomfort, pain with left lateral gaze, and dizziness...
2018: Surgical Neurology International
https://www.readbyqxmd.com/read/29622677/heparan-sulfate-antagonism-alters-bone-morphogenetic-protein-signaling-and-receptor-dynamics-suggesting-a-mechanism-in-hereditary-multiple-exostoses
#14
Christina Mundy, Evan Yang, Hajime Takano, Paul C Billings, Maurizio Pacifici
Hereditary multiple exostoses (HME) is a pediatric disorder caused by heparan sulfate (HS) deficiency and is characterized by growth plate-associated osteochondromas. Previously, we found that osteochondroma formation in mouse models is preceded by ectopic bone morphogenetic protein (BMP) signaling in the perichondrium, but the mechanistic relationships between BMP signaling and HS deficiency remain unclear. Therefore, we used an HS antagonist (surfen) to investigate the effects of this HS interference on BMP signaling, ligand availability, cell-surface BMP receptor (BMPR) dynamics, and BMPR interactions in Ad-293 and C3H/10T1/2 cells...
May 18, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29541207/novel-exostosin-2-mutation-identified-in-a-chinese-family-with-hereditary-multiple-osteochondroma
#15
Weiwei Ruan, Li Cao, Zhonghua Chen, Mingxiang Kong, Qing Bi
Hereditary multiple osteochondroma (HMO) is an autosomal dominant genetic disorder characterized by multiple outgrowing bony tumors capped by cartilage, generally affecting the metaphyses. The disease is known as hereditary multiple exostoses, familial exostosis, multiple cartilaginous exostoses or hereditary malformation of cartilage. The prevalence of HMO in Europe and the Unites States is ~1:100,000, although it has not been reported in China. The disease is often accompanied by pain, asymmetry and skeletal malformations, including forearm and leg bending deformities, limb length discrepancies, and knee internal and external rotation abnormalities...
April 2018: Oncology Letters
https://www.readbyqxmd.com/read/29538090/high-functioning-autism-in-a-sri-lankan-youth-with-langer-giedion-syndrome
#16
Miyuru Chandradasa, Shehan Williams
The trichorhinophalangeal syndrome is a rare genetic disorder with a classical clinical triad of sparse hair, bulbous nose, and short digits. There are three known phenotypes, and the type II with exostoses in long bones is known as Langer-Giedion syndrome. Here, we describe a 28-year-old Sri Lankan male with Langer-Giedion syndrome and high-functioning autism. The karyotype found a microdeletion of the long arm of chromosome 8 with mosaicism [46,XY/46,XY,del(8)(q24.1q24.3)]. This is probably the first report of Langer-Giedion Syndrome with autism and the first report of the genetic syndrome from Sri Lanka...
June 2018: Psychiatric Genetics
https://www.readbyqxmd.com/read/29415886/osteoblastic-heparan-sulfate-regulates-osteoprotegerin-function-and-bone-mass
#17
Satoshi Nozawa, Toshihiro Inubushi, Fumitoshi Irie, Iori Takigami, Kazu Matsumoto, Katsuji Shimizu, Haruhiko Akiyama, Yu Yamaguchi
Bone remodeling is a highly coordinated process involving bone formation and resorption, and imbalance of this process results in osteoporosis. It has long been recognized that long-term heparin therapy often causes osteoporosis, suggesting that heparan sulfate (HS), the physiological counterpart of heparin, is somehow involved in bone mass regulation. The role of endogenous HS in adult bone, however, remains unclear. To determine the role of HS in bone homeostasis, we conditionally ablated Ext1, which encodes an essential glycosyltransferase for HS biosynthesis, in osteoblasts...
February 8, 2018: JCI Insight
https://www.readbyqxmd.com/read/29409186/medial-and-lateral-exostoses-of-the-distal-phalanx-of-the-hallux-a-potentially-painful-bunion-like-structure-part-1-incidence-and-clinical-application
#18
V Montiel, M Alfonso, C Villas, A Valentí
BACKGROUND: Exostoses at the base of the distal phalanx of the great toe are usually asymptomatic. The literature has not generally considered them as the origin of a possible problem resulting from a pressure conflict between hallux and shoe (medial aspect) or second toe (lateral aspect) nor a potential complication of surgical correction of hallux valgus deformity. No studies, to our knowledge, have evaluated its possible correlation with other foot disorders. When one of these neglected exostoses became painful after surgical correction of hallux valgus, we decided to start a study to determine their possible origin, prevalence in daily practice and histo-pathological morphology...
November 13, 2017: Foot and Ankle Surgery: Official Journal of the European Society of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29359542/heterotopic-ossification-of-the-xiphoid-process-after-abdominal-surgery-for-traumatic-hemoperitoneum
#19
Seung Pyo Hong, Jin Bae Lee, Chi Hoon Bae
Heterotopic ossification of the xiphoid process is extremely rare, with only three cases previously reported. However, the surgical pathology for postoperative elongation of the xiphoid process after abdominal surgery has not yet been reported. We report a case of the postoperative elongation of the xiphoid process, 8 years after abdominal surgery for traumatic hemoperitoneum in a 53-year-old man. The patient underwent surgical excision of the elongated mass of the xiphoid process. Histopathology revealed multiple exostoses...
February 12, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29336398/concomitant-neurogenic-and-vascular-thoracic-outlet-syndrome-due-to-multiple-exostoses
#20
Hosseinali Abdolrazaghi, Azade Riyahi, Morteza Taghavi, Pezhman Farshidmehr, Abolfazl Mohammadbeigi
We report a rare case of multiple hereditary exostosis where patient presented with bilateral base of neck exostoses with concurrent compression of brachial plexus and subclavian artery and vein. The patient was a young 26-year-old woman with chief complaints of pain in the left upper extremity, paresthesia in the left ring and little finger, and weakness in hand movement and grip. On referral, history, physical examination, radiological imaging, and electrodiagnostic tests evaluated the patient. Due to severe pain and disability in performing routine activities, surgical intervention was necessary...
January 2018: Annals of Cardiac Anaesthesia
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