Exostosis and Enchondroma in the Same Digit of the Same Side
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Multiple Hereditary Exostoses Abstract Book, 2005
CONFERENCE ON Multiple Hereditary Exostoses InsightsInsights IntoInto PathogenesisPathogenesis November 3-5, 2005 Shriners Hospital of Houston 6977 Main Street Houston, Texas and the Houston Marriott Medical Center 6580 Fannin Street Houston, Texas Organizers: Dan Wells, Ph.D., Jacqueline Hecht, Ph.D., Sarah Ziegler Sponsored By: The Shriners Hospital The National Institutes of Health American Association of Enchondroma Diseases March of Dimes Birth Defects Foundation The Orthopaedic Research Society The MHE Coalition Gene Dx, DNA Diagnostic Services The Mizutani Foundation for Glycoscience HME: Insights into Pathogenesis. Schedule of Events Thursday November 3, 2005 8:30-9:00 Arrive at Shriners (Coffee and Pastries) 9:00-9:10 Dan Wells, Ph.D. Welcome to conference 9:10-9:30 Jacqueline Hecht, Ph.D. Introduction to genetics and natural history MHE ORTHOPAEDICS AND CLINICAL GENETICS (Christine Alvarez) 9:30-10:10 Christine Alvarez, M.D. Introduction of orthopaedics and defining severity of Hereditary Multiple Exostosis 10:10-10:40 Luca Sangiorgi, M.D., Ph.D. Mutational analysis and clinical expression of disease in patients with HME. 10:40-11:00 BREAK 11:00-11:30 Wim Wuyts, Ph.D. Mutation detection strategies for molecular screening in patients with HME. 11:30-12:00 George Thompson, M.D. Clinical treatments and surgical procedures. 12:00-1:15 LUNCH BONE DEVELOPMENT (Dan Wells) 1:15-1:45 John R. Hassell, Ph.D. FGF binding to percelan isolated from the growth plate. 1:45-2:15 David Ornitz, M.D., Ph.D. FGF that regulate growth plate development. 2:15-2:45 Maurizio Pacifici, M.D., Ph.D. -
Bone and Soft Tissue Tumors Have Been Treated Separately
EPIDEMIOLOGY z Sarcomas are rare tumors compared to other BONE AND SOFT malignancies: 8,700 new sarcomas in 2001, with TISSUE TUMORS 4,400 deaths. z The incidence of sarcomas is around 3-4/100,000. z Slight male predominance (with some subtypes more common in women). z Majority of soft tissue tumors affect older adults, but important sub-groups occur predominantly or exclusively in children. z Incidence of benign soft tissue tumors not known, but Fabrizio Remotti MD probably outnumber malignant tumors 100:1. BONE AND SOFT TISSUE SOFT TISSUE TUMORS TUMORS z Traditionally bone and soft tissue tumors have been treated separately. z This separation will be maintained in the following presentation. z Soft tissue sarcomas will be treated first and the sarcomas of bone will follow. Nowhere in the picture….. DEFINITION Histological z Soft tissue pathology deals with tumors of the classification connective tissues. of soft tissue z The concept of soft tissue is understood broadly to tumors include non-osseous tumors of extremities, trunk wall, retroperitoneum and mediastinum, and head & neck. z Excluded (with a few exceptions) are organ specific tumors. 1 Histological ETIOLOGY classification of soft tissue tumors tumors z Oncogenic viruses introduce new genomic material in the cell, which encode for oncogenic proteins that disrupt the regulation of cellular proliferation. z Two DNA viruses have been linked to soft tissue sarcomas: – Human herpes virus 8 (HHV8) linked to Kaposi’s sarcoma – Epstein-Barr virus (EBV) linked to subtypes of leiomyosarcoma z In both instances the connection between viral infection and sarcoma is more common in immunosuppressed hosts. -
Advances in the Pathogenesis and Possible Treatments for Multiple Hereditary Exostoses from the 2016 International MHE Conference
Connective Tissue Research ISSN: 0300-8207 (Print) 1607-8438 (Online) Journal homepage: https://www.tandfonline.com/loi/icts20 Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference Anne Q. Phan, Maurizio Pacifici & Jeffrey D. Esko To cite this article: Anne Q. Phan, Maurizio Pacifici & Jeffrey D. Esko (2018) Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference, Connective Tissue Research, 59:1, 85-98, DOI: 10.1080/03008207.2017.1394295 To link to this article: https://doi.org/10.1080/03008207.2017.1394295 Published online: 03 Nov 2017. Submit your article to this journal Article views: 323 View related articles View Crossmark data Citing articles: 1 View citing articles Full Terms & Conditions of access and use can be found at https://www.tandfonline.com/action/journalInformation?journalCode=icts20 CONNECTIVE TISSUE RESEARCH 2018, VOL. 59, NO. 1, 85–98 https://doi.org/10.1080/03008207.2017.1394295 PROCEEDINGS Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference Anne Q. Phana, Maurizio Pacificib, and Jeffrey D. Eskoa aDepartment of Cellular and Molecular Medicine, Glycobiology Research and Training Center, University of California, San Diego, La Jolla, CA, USA; bTranslational Research Program in Pediatric Orthopaedics, Division of Orthopaedic Surgery, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA ABSTRACT KEYWORDS Multiple hereditary exostoses (MHE) is an autosomal dominant disorder that affects about 1 in 50,000 Multiple hereditary children worldwide. MHE, also known as hereditary multiple exostoses (HME) or multiple osteochon- exostoses; multiple dromas (MO), is characterized by cartilage-capped outgrowths called osteochondromas that develop osteochondromas; EXT1; adjacent to the growth plates of skeletal elements in young patients. -
Exostoses, Enchondromatosis and Metachondromatosis; Diagnosis and Management
Acta Orthop. Belg., 2016, 82, 102-105 ORIGINAL STUDY Exostoses, enchondromatosis and metachondromatosis; diagnosis and management John MCFARLANE, Tim KNIGHT, Anubha SINHA, Trevor COLE, Nigel KIELY, Rob FREEMAN From the Department of Orthopaedics, Robert Jones Agnes Hunt Hospital, Oswestry, UK We describe a 5 years old girl who presented to the region of long bones and are composed of a carti- multidisciplinary skeletal dysplasia clinic following lage lump outside the bone which may be peduncu- excision of two bony lumps from her fingers. Based on lated or sessile, the knee is the most common clinical examination, radiolographs and histological site (1,10). An isolated exostosis is a common inci- results an initial diagnosis of hereditary multiple dental finding rarely requiring treatment. Disorders exostosis (HME) was made. Four years later she developed further lumps which had the radiological associated with exostoses include HME, Langer- appearance of enchondromas. The appearance of Giedion syndrome, Gardner syndrome and meta- both exostoses and enchondromas suggested a possi- chondromatosis. ble diagnosis of metachondromatosis. Genetic testing Enchondroma are the second most common be- revealed a splice site mutation at the end of exon 11 on nign bone tumour characterised by the formation of the PTPN11 gene, confirming the diagnosis of meta- hyaline cartilage in the medulla of a bone. It occurs chondromatosis. While both single or multiple exosto- most frequently in the hand (60%) and then the feet. ses and enchondromas occur relatively commonly on The typical radiological features are of a well- their own, the appearance of multiple exostoses and defined lucent defect with endosteal scalloping and enchondromas together is rare and should raise the differential diagnosis of metachondromatosis. -
Final Copy 2020 09 29 Mania
This electronic thesis or dissertation has been downloaded from Explore Bristol Research, http://research-information.bristol.ac.uk Author: Maniaki, Evangelia Title: Risk factors, activity monitoring and quality of life assessment in cats with early degenerative joint disease General rights Access to the thesis is subject to the Creative Commons Attribution - NonCommercial-No Derivatives 4.0 International Public License. A copy of this may be found at https://creativecommons.org/licenses/by-nc-nd/4.0/legalcode This license sets out your rights and the restrictions that apply to your access to the thesis so it is important you read this before proceeding. Take down policy Some pages of this thesis may have been removed for copyright restrictions prior to having it been deposited in Explore Bristol Research. However, if you have discovered material within the thesis that you consider to be unlawful e.g. breaches of copyright (either yours or that of a third party) or any other law, including but not limited to those relating to patent, trademark, confidentiality, data protection, obscenity, defamation, libel, then please contact [email protected] and include the following information in your message: •Your contact details •Bibliographic details for the item, including a URL •An outline nature of the complaint Your claim will be investigated and, where appropriate, the item in question will be removed from public view as soon as possible. RISK FACTORS, ACTIVITY MONITORING AND QUALITY OF LIFE ASSESSMENT IN CATS WITH EARLY DEGENERATIVE JOINT DISEASE Evangelia Maniaki A dissertation submitted to the University of Bristol in accordance with the requirements for award of the degree of Master’s in Research in the Faculty of Health Sciences Bristol Veterinary School, June 2020 Twenty-nine thousand two hundred and eighteen words 1. -
Ch07 Final.Qxd 7/2/07 13:55 Page 87
Ch07 final.qxd 7/2/07 13:55 Page 87 87 CHAPTER 7 ARTHROLOGY Feline arthrology has been an overlooked subject in term osteoarthritis is reserved for the specific type of the past with most reviews of joint disease in small DJD that affects diarthrodial synovial articulations. animals focusing on the dog. However, cats are now Diseases of synovial joints can conveniently be known to suffer from many different types of joint divided into degenerative arthritis and inflammatory disease and, although there are many similarities with arthritis on the basis of the predominant pathologic the dog, there are also many features that are unique process (Table 20). Degenerative arthropathies are the to the feline patient. most common types and include traumatic arthritis and osteoarthritis. Inflammatory arthropathies are less CLASSIFICATION OF JOINT DISEASE common than degenerative arthropathies and have The terms arthritis and arthropathy literally mean joint either an infective or immune-mediated etiology. inflammation and joint disease, respectively. These terms Infective arthritis caused by bacterial infection (septic are used interchangeably in this chapter to describe arthritis) is the commonest type of inflammatory arthritis a number of well defined joint diseases characterized in the cat. Septic arthritis is classed as an erosive type of by a combination of inflammatory and degenerative arthritis because there is destruction of articular cartilage changes. The terms degenerative joint disease (DJD) in joints infected by bacteria. Immune-mediated and osteoarthritis are also often used synonymously. In arthropathies can be subdivided into both erosive this chapter, DJD is used as a general descriptive term to and nonerosive forms. -
Ollier Disease: a Case Report
Case Report Ollier Disease: A Case Report Bajracharya L*, Shrestha M**, Paudel S***, Shrestha PS*** *Teaching Assistant, **Assistant Professor, Department of Paediatrics, ***Assistant Professor, Department of Radiology, ****Professor, Department of Paediatrics, TUTH, Kathmandu, Nepal. ABSTRACT Ollier disease is a rare disease featuring multi ple enchondromas mainly aff ecti ng limbs. We describe a boy who presented in our OPD with multi ple painless joint deformiti es mostly in the both upper and lower limbs. Conventi onal X-ray evaluati on revealed typical multi ple radiolucent, homogenous oval and elongated shapes in the deformed limbs. : Ollier Disease , Enchondromatosis INTRODUCTION Enchondromas are common, benign, usually deformity of limbs. There is no history of weight asymptomati c carti lage tumours that develop in loss or traumati c injury. There is no similar family metaphyses and may also involve the diaphysis of history . He is acti ve , appropriate in all domains of long tubular bones.1 Ollier disease is defi ned by the development except delayed motor milestones, short presence of multi ple enchondromas and characterized limb gait and postural lumbar scoliosis. His vitals are by an asymmetric distributi on of carti lage lesions which stable. Weight is 20kg and height is 106cm (both less can be extremely variable. 2 The prevalence of Ollier’s than 3rd percenti le of NCHS). His head circumference disease is esti mated to be 1/100000 .1Children with is 52cm (50th percenti le). Upper segment to lower symptomati c enchondromatosis cases usually present segment rati o is 0.89cm. Multi ple joints are swollen before puberty with deformity, growth disorders and but nontender and non-erythematous. -
SKELETAL DYSPLASIA Dr Vasu Pai
SKELETAL DYSPLASIA Dr Vasu Pai Skeletal dysplasia are the result of a defective growth and development of the skeleton. Dysplastic conditions are suspected on the basis of abnormal stature, disproportion, dysmorphism, or deformity. Diagnosis requires Simple measurement of height and calculation of proportionality [<60 inches: consideration of dysplasia is appropriate] Dysmorphic features of the face, hands, feet or deformity A complete physical examination Radiographs: Extremities and spine, skull, Pelvis, Hand Genetics: the risk of the recurrence of the condition in the family; Family evaluation. Dwarf: Proportional: constitutional or endocrine or malnutrition Disproportion [Trunk: Extremity] a. Height < 42” Diastrophic Dwarfism < 48” Achondroplasia 52” Hypochondroplasia b. Trunk-extremity ratio May have a normal trunk and short limbs (achondroplasia), Short trunk and limbs of normal length (e.g., spondylo-epiphyseal dysplasia tarda) Long trunk and long limbs (e.g., Marfan’s syndrome). c. Limb-segment ratio Normal: Radius-Humerus ratio 75% Tibia-Femur 82% Rhizomelia [short proximal segments as in Achondroplastics] Mesomelia: Dynschondrosteosis] Acromelia [short hands and feet] RUBIN CLASSIFICATION 1. Hypoplastic epiphysis ACHONDROPLASTIC Autosomal Dominant: 80%; 0.5-1.5/10000 births Most common disproportionate dwarfism. Prenatal diagnosis: 18 weeks by measuring femoral and humeral lengths. Abnormal endochondral bone formation: zone of hypertrophy. Gene defect FGFR fibroblast growth factor receptor 3 . chromosome 4 Rhizomelic pattern, with the humerus and femur affected more than the distal extremities; Facies: Frontal bossing; Macrocephaly; Saddle nose Maxillary hypoplasia, Mandibular prognathism Spine: Lumbar lordosis and Thoracolumbar kyphosis Progressive genu varum and coxa valga Wedge shaped gaps between 3rd and 4th fingers (trident hands) Trident hand 50%, joint laxity Pathology Lack of columnation Bony plate from lack of growth Disorganized metaphysis Orthopaedics 1. -
Imaging in Osteogenesis Imperfecta
Paediatr Croat. 2017;61:122-8 PREGLED / REVIEW www.paedcro.com http://dx.doi.org/10.13112/PC.2017.17 Imaging in osteogenesis imperfecta Igor Borić, Renata Prpić Vučković* Osteogenesis imperfecta (OI) is a congenital genetic disorder with skeletal or extra-skeletal manifestations. Phenotypic features and mode of inheritance, clinical features, and radiographic fi ndings make the basis for the currently accepted classifi cation system of OI. The antenatal and postnatal diagnosis of the disease using diff erent radiographic methods (plain radiography, ultrasonography, computed tomography and magnetic resonance imaging) is described and characteristic appearances of bone and other defor- mities are analyzed. Distinctive bone manifestations of OI are illustrated using typical examples. Finally, we give a comment on diff erential diagnosis. Key words: osteogenesis imperfecta, radiography, imaging Osteogenesis imperfecta (OI) is a congenital, genetic disor- od: radiography, ultrasonography (US), computed tomogra- der of collagen type I synthesis that involves connective tis- phy (CT) and magnetic resonance imaging (MRI) (3, 7, 8). sues and bones, and is characterized by increased bone The preferred radiographic examination for initial investiga- fragility and decreased bone density. There is extreme varia- tion of OI is plain radiography because most of the imaging tion in clinical symptoms based on genetics and subtypes characteristics of this disease are apparent on plain radio- including blue sclera, dental fragility, and hearing loss. De- graphs. pending on the disease severity, bone fragility may lead to Prenatal ultrasonography plays a role in the diagnosis of OI; perinatal death or can cause severe deformities that persist typical fi ndings include fractures, decreased calvarial ossifi ca- into adulthood (1, 2). -
Multiple Hereditary Exostoses
Multiple Hereditary Exostoses Dror Paley MD, FRCSC Medical Director, Paley Orthopedic and spine Institute, St. Mary’s Medical Center, West palm Beach, FL David Feldman, MD Director, Spinal deformity center, Paley Orthopedic and spine Institute, St. Mary’s Medical Center, West palm Beach, FL Multiple hereditary exostoses (MHE), also known as multiple osteochondromas (MO), is an autosomal dominant skeletal disorder. Approximately 10–20% of individuals are a result of a spontaneous mutation while the rest are familial. The prevalence of MHE/MO is 1/50 000. There are two known genes found to cause MHE/MO, EXT1 located on chromosome 8q23-q24 and EXT2 located on chromosome 11p11-p12. In 10–15% of the patients, no mutation can be located by current methods of genetic testing.1–7 These mutations are scattered across both genes. EXT1/EXT2 is essential for the biosynthesis of heparan sulfate (HS). HS production in patients’ cells is reduced by 50% or more.8–19 MHE/MO is associated with characteristic progressive skeletal deformities of the extremities and shortening of one or both the sides, leading to limb length discrepancy (LLD) and short stature.20–28 Two bone segments, such as the lower leg or forearm, are at greater risk of problems due to either osteochondromas (OCs) from one or both bones impinging on or deforming the other bone or a primary issue of altered growth causing one bone to grow at a faster or slower rate. OCs can also affect joint motion due to impingement of an OC with the opposite side of the joint or subluxation/dislocation related to deformity, impingement, and incongruity.20,24,26,29,30 OCs can also cause nerve or vessel entrapment and/or compression, including the spinal cord and nerve roots. -
Treatment of Phalanx Enchondroma by Autograft Harvested from the Bone with Osteopoikilosis: a Case Report
CASE REPORT Acta Medica Alanya 2017 Cilt : 1 Sayı : 2 OLGU SUNUMU Treatment Of Phalanx Enchondroma By Autograft Harvested From The Bone With Osteopoikilosis: A Case Report Falanks Enkondromunun Osteopoıkılozlu Kemikten Alınan Otogreft ile Tedavisi: Olgu Sunumu Gökhan Peker1, Sunkar Kaya Bayrak2, Alkan Bayrak3*, Dila Mete Peker4 1. Trabzon Kanuni Eğitim ve Araştırma Hastanesi Ortopedi ve Travmatoloji Kliniği, Trabzon, Türkiye. 2. Saglik Bakanliği Turhal Devlet Hastanesi, Anestezi ve Reanimasyon Servisi, Turhal, Tokat, Türkiye 3. Saglik Bakanliği Turhal Devlet Hastanesi, Ortopedi ve Travmatoloji Servisi, Turhal, Tokat, Türkiye 4. Trabzon Kanuni Eğitim ve Araştırma Hastanesi İç Hastaliklari Kliniği, Trabzon, Türkiye. ABSTRACT ÖZET Osteopoikilosis is a rare bone dysplasia characterized by abnormally enchondral Osteopoikiloz, çocukluk çağında gelişmeye başlayan ve ileri yaşlarda devam eden, bone maturation, which generally stars to be formed in the childhood and continues enkondral kemik matürasyonunda anormallikle karakterize, nadir görülen bir kemik in the adulthood. It is generally asemptomatic and it is determined incidentally. As it is displazisidir. Sıklıkla asemptomatik olmakla beraber genellikle rastlantısal olarak generally inherited otosomal dominantly, sporadic cases can also be seen. Enchon- saptanır. Otozomal dominant geçişli olan patoloji, sporadik olarak da görülebilmekte- droma is a benign lesion formed from hyaline cartilage mostly in small bones like foot dir. Enkondrom ise klasik olarak hiyalin kıkırdak kökenli benign, ayak ve el kemikleri and hand with longitudinal and elliptic shape. In this study, we would like to discuss gibi küçük kemiklerde yerleşmiş olan uzunlamasına ve oval kemik lezyonlarıdır. Bu the patient with phalangeal enchondroma and osteopoikilosis. çalışmamızda, osteopoikiloz tanılı ve falanksında enkondrom oluşan olgumuzu sun- mayı ve tedavisini tartışmayı amaçladık. -
Benign Bone Tumors of the Foot and Ankle
CHAPTER 20 BENIGN BONE TUMORS OF THE FOOT AND ANKLE, Robert R. Miller, D.P.M. Stephen V. Corey, D.P.M. Benign bone tumors of the foot and ankle typically Table 1 displays the percentage of each lesion present both a diagnostic and therapeutic challenge found in the leg and foot. The lesions represent a to podiatric surgeons. These lesions have a percentage of local lesions compared to the total relatively low incidence of occuffence in the foot number of lesions reported for the studies. It does and ankle when compared to other regions of the seem apparent that the overall incidence of foot body, and the behavior of these lesions may mimic and ankle involvement is relatively low, but some malignant tumors. Not only is it impofiant to tumors do occur with a somewhat frequent rate. recognize a specific lesion to insure proper treat- Primarily, enchondroma, osteochondroma, osteoid ment, but the ability to differentiate a benign from osteoma, simple (unicameral) bone cysts, and malignant process is of utmost importance. aneurysmal bone cysts are somewhat common in It is difficult to determine the true incidence of the foot and ankle. benign bone tumors of the foot and ankle. Most large studies do not distinguish individual tarsal RADIOGRAPHIC CHARACTERISTICS OF bones, nor is there a distinction made befween BENIGN BONE TUMORS proximal and distal aspects of the tibia and fibula. Dahlin's Bone Tumors has reported findings of the Several radiographic parameters have been Mayo Clinic up until 7993.' total 2334 Of a of described to differentiate between benign and benign bone tumors affecting the whole body, malignant bone tumors.