DOCSLIB.ORG

Multiple Hereditary Exostoses

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Multiple Hereditary Exostoses CE Directed Reading Multiple Hereditary Exostoses Cheryl O DuBose, EdD, R.T.(R)(CT)(MR)(QM) Multiple hereditary exostoses After completing this article, the reader should be able to: (MHE), also known as Define terms such as exostosis, osteochondroma, and chondrosarcoma. multiple osteochondromas, Describe the basic characteristics of multiple hereditary exostoses (MHE). is an autosomal dominant Discuss the genetic components of MHE. disease that results in Explain the roles of various imaging modalities in the diagnosis of osteochondromas the development of and chondrosarcomas. Discuss treatment options and prognosis for those affected by MHE. osteochondromas throughout the body. The disease typically is diagnosed during ultiple hereditary exostoses direction in bone growth (eg, Nora childhood and requires lifelong (MHE) is a rare bone disor- lesion or Trevor disease), or a reactive monitoring and treatment der that affects the growth process (subungual exostosis).4 This of painful osteochondromas. plates or other areas of the clarification of terminology allows Individuals with MHE must M body in which cartilage eventually con- for a more specific diagnosis. Other be monitored for complications verts to bone.1,2 Approximately 96% of terms often are used to describe MHE that can arise and the potential MHE diagnoses occur in individuals (see Box 1).1,5,6 malignant transformation between 2 and 12 years old.1 Ty pically Although the World Health of an osteochondroma into involving long bones, this disease Organization reclassified MHE as a chondrosarcoma. This results in sometimes painful, abnormal multiple osteochondromas, a review of article discusses the basic bone growth that can adversely affect the literature shows that MHE remains characteristics of MHE, the knees, forearms, humerus, pelvis, a popular description of the disease 1,3 3,6-9 genetic links, the role of ribs, or spine. MHE produces numer- process. MHE is the term used in medical imaging in diagnosis, ous benign tumors that vary in size and this article to reflect popular medical and treatment options. shape, and usually are persistent, even literature from the United States and a recurring in an area following surgical cited case study. resection.1 Genetic mutations are thought to cause MHE.3 Normal Bone Anatomy MHE was reclassified as multiple To understand the significance of This article is a Directed osteochondromas by the World Health abnormal bone growth in patients 1,2 Reading. Your access to Organization in 2002. The explana- with MHE, it is necessary to review Directed Reading quizzes tion for the change was the use of the normal bone anatomy and the bone for continuing education term exostosis by the medical commu- growth process. Bone is composed of credit is determined by nity and the public to describe any type 2 types of osseous tissue: cortical bone your membership status of bone growth, whether the growth and cancellous bone. Cortical bone and CE preference. was the result of a benign cartilaginous (also known as compact bone) is the tumor (osteochondroma), a distorted outermost layer of bone and contains RADIOLOGIC TECHNOLOGY, January/February 2016, Volume 87, Number 3 305 CE Directed Reading Multiple Hereditary Exostoses elementary units called osteons (or Haversian systems). Box 1 Osteons surround the Haversian canals, which carry Alternative Names for Multiple blood vessels, lymph vessels, and nerves throughout Hereditary Exostoses1,5,6 the cortical bone. The inside surface of cortical bone The following synonyms for multiple heredity exostoses often contains bone-forming cells (osteoblasts) and bone- are used in practice and in the literature: resorbing cells (osteoclasts). The dense cortical bone is Chondral osteogenic dysplasia of direction protected by the periosteum, a thin connective tissue Chondral osteoma membrane that covers and protects the entire bone and Deforming chondrodysplasia also contains osteoblasts, fibroblasts, blood vessels, and Diaphyseal aclasis (multiple hereditary) 10,11 nerves (see Figure 1). Dyschondroplasia The medullary cavity is within the cortical bone Exostosing disease 10,11 and is composed of cancellous, or spongy, bone. Exostotic dysplasia Cancellous bone is less dense than cortical bone, con- EXT sists of trabeculae, is responsible for hematopoiesis Hereditary deforming chondrodysplasia (blood formation), and is found in the bony interior and Hereditary multiple exostoses at the epiphyses of long bones.11 The epiphyseal plate Osteochondromatosis and the adjacent terminal diaphysis represent the most Osteogenic disease Multiple cartilaginous exostoses Multiple congenital osteochondromata Multiple osteochondromas Multiple osteomatoses Figure 1. Internal bone structure. 306 RADIOLOGIC TECHNOLOGY, January/February 2016, Volume 87, Number 3 CE Directed Reading DuBose metabolically active segment of the long bones until a ■ Calcium deposits in various organs throughout child reaches puberty, unless trauma or another patho- the body (especially the kidneys). physiological condition, such as healing of bone frac- ■ Renal failure. tures, occurs.10 This area also is known as the metaphy- ■ Anemia. sis because of its changing nature during growth and ■ Leukopenia. development.10 It is the abnormal osseous transforma- ■ Osteoporosis. tion of the cartilage cap in the diaphysis, the shaft of ■ Bone fractures. the long bones of the axial and appendicular skeleton, Chemotherapy and radiation therapy are the stan- that is the primary negative outcome for patients with dard methods of treatment, but the prognosis for this MHE.9 Yellow bone marrow is housed within the disease is grim. Most individuals survive 3 to 4 years, diaphysis, and the body can convert it to red marrow in but few survive beyond 10 years.10,11 cases of heavy blood loss or anemia to increase blood cell production.11 Leukemia Discovered in 1845 almost simultaneously by Bone Tumors Rudolf Virchow in Berlin and John Hughes Bennett in Primary bone tumors are rare, accounting for fewer Edinburgh, leukemia is a malignant disease involving than 1% of all clinically diagnosed tumors.10 Of these, white blood cells in the bone marrow and peripheral approximately 50% result from neoplasms of the blood- blood.10 White blood cells are produced by flat bones, forming cells of the bone marrow, such as multiple such as the sternum and pelvis, and by lymph nodes myeloma and leukemia. The other 50% of primary bone in adults because the blood-producing red bone mar- tumors are the result of bone-forming cells (osteoid row of long bones is replaced by fat as people mature. osteoma and osteosarcoma), cartilage cells (chondroma However, during infancy and adolescence, white blood and chondrosarcoma), osteoclasts, and primitive mes- cells can be produced by the thymus, lymph nodes, long enchymal bone marrow cells (Ewing sarcoma).10 bones, or flat bones. In cases where hematopoietic bone marrow is destroyed, hematopoiesis might resume in Primary Bone Tumors the spleen, liver, and lymph nodes.10 Multiple Myeloma The term leukemia means “white blood,” referring to Multiple myeloma is a malignant disease of plasma the milky white appearance of blood when the number cells. Plasma accounts for approximately 55% to 60% of white cells reaches approximately 1 million cells/L. of total blood volume and 5% of cells found in healthy However, with modern medicine, most patients are diag- bone marrow. Descendants of B lymphocytes, plasma nosed and treated for the disease well before white cell lev- cells proliferate and produce antibodies in the form els progress to this point. Symptoms of leukemia include of various immunoglobins. Multiple myeloma is the anemia, recurrent infections, and uncontrollable bleeding. result of a malignant transformation of a single plasma According to Damjanov, overwhelming infection is the cell, which is known as plasmacytoma.10 In plasmacy- leading cause of death in all forms of leukemia.10 toma, the malignantly transformed bone marrow cell produces numerous clones with the same mutation Osteoid Osteoma that spread to other sites and become multiple myelo- Osteoid osteomas are benign bone tumors repre- ma.10,11 As the number of immunoglobulins specific to senting approximately 10% of benign skeletal neo- the plasmacytoma increases, a spike in the abnormal plasms12 that usually affect the long bones of young plasma cell mutation can be detected through serum adults.13 Small and spherical in shape, these tumors protein testing.10 typically have a diameter of 1.5 cm or less.12 Although Multiple myeloma eventually destroys bone marrow an osteoma can appear anywhere in the skeletal system, and the surrounding bone, creating multiple lytic bone the lesion usually is seen in the long bones of the lower lesions that appear on radiographs.10,11 Complications extremities. Approximately one-quarter of these lesions include10,11: occur in the proximal femur.12 RADIOLOGIC TECHNOLOGY, January/February 2016, Volume 87, Number 3 307 CE Directed Reading Multiple Hereditary Exostoses Pain and swelling of the affected area, as well as Chondrosarcomas typically originate in the axial possible restriction of motion, are the most common skeleton (pelvis, ribs, and vertebrae) and the adjacent clinical symptoms. Diagnosis generally is supported portion of long bones (proximal femur and humer- by radiography, computed tomography (CT), or us). 10,11 Patients might describe a dull pain of long magnetic resonance (MR) imaging.12 Bone scintig- duration, an increase in the
Load more

Recommended publications
  • Severe Septicaemia in a Patient with Polychondritis and Sweet's
    81 LETTERS Ann Rheum Dis: first published as 10.1136/ard.62.1.88 on 1 January 2003. Downloaded from Severe septicaemia in a patient with polychondritis and Sweet’s syndrome after initiation of treatment with infliximab F G Matzkies, B Manger, M Schmitt-Haendle, T Nagel, H-G Kraetsch, J R Kalden, H Schulze-Koops ............................................................................................................................. Ann Rheum Dis 2003;62:81–82 D Sweet first described an acute febrile neutrophilic dermatosis in 1964 characterised by acute onset, fever, Rleucocytosis, and erythematous plaques.1 Skin biopsy specimens show infiltrates consisting of mononuclear cells and neutrophils with leucocytoclasis, but without signs of vasculi- tis. Sweet’s syndrome is frequently associated with solid malig- nancies or haemoproliferative disorders, but associations with chronic autoimmune connective tissue disorders have also been reported.2 The aetiology of Sweet’s syndrome is unknown, but evidence suggests that an immunological reaction of unknown specificity is the underlying mechanism. CASE REPORT A 51 year old white man with relapsing polychondritis (first diagnosed in 1997) was admitted to our hospital in June 2001 with a five week history of general malaise, fever, recurrent arthritis, and complaints of morning stiffness. Besides Figure 1 autoimmune polychondritis, he had insulin dependent Manifestation of Sweet’s syndrome in a patient with relapsing polychondritis. diabetes mellitus that was diagnosed in 1989. On admission, he presented with multiple small to medium, sharply demarked, raised erythematous plaques on both fore- dose of glucocorticoids (80 mg) and a second application of http://ard.bmj.com/ arms and lower legs, multiple acne-like pustules on the face, infliximab (3 mg/kg body weight) were given.
    [Show full text]
  • Hypophosphatasia Could Explain Some Atypical Femur Fractures
    Hypophosphatasia Could Explain Some Atypical Femur Fractures What we know Hypophosphatasia (HPP) is a rare genetic disease that affects the development of bones and teeth in children (Whyte 1985). HPP is caused by the absence or reduced amount of an enzyme called tissue-nonspecific alkaline phosphatase (TAP), also called bone-specific alkaline phosphatase (BSAP). The absence of TAP raises the level of inorganic pyrophosphate (Pi), which prevents calcium and phosphate from creating strong, mineralized bone. Without TAP, bones can become weak. In its severe form, HPP is fatal and happens in 1/100,000 births. Because HPP is genetic, it can appear in adults as well. A recent study has identified a milder, more common form of HPP that occurs in 4 of 1000 adults (Dahir 2018). This form of HPP is usually seen in early middle aged adults who have low bone density and sometimes have stress fractures in the feet or thigh bone. Sometimes these patients lose their baby teeth early, but not always. HPP is diagnosed by measuring blood levels of TAP and vitamin B6. An elevated vitamin B6 level [serum pyridoxal 5-phosphate (PLP)] (Whyte 1985) in a patient with a TAP level ≤40 or in the low end of normal can be diagnosed with HPP. Almost half of the adult patients with HPP in the large study had TAP >40, but in the lower end of the normal range (Dahir 2018). The connection between hypophosphatasia and osteoporosis Some people who have stress fractures get a bone density test and are treated with an osteoporosis medicine if their bone density results are low.
    [Show full text]
  • 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.
    [Show full text]
  • Applications of Chondrocyte-Based Cartilage Engineering: an Overview
    Hindawi Publishing Corporation BioMed Research International Volume 2016, Article ID 1879837, 17 pages http://dx.doi.org/10.1155/2016/1879837 Review Article Applications of Chondrocyte-Based Cartilage Engineering: An Overview Abdul-Rehman Phull,1 Seong-Hui Eo,1 Qamar Abbas,1 Madiha Ahmed,2 and Song Ja Kim1 1 Department of Biological Sciences, College of Natural Sciences, Kongju National University, Gongjudaehakro 56, Gongju 32588, Republic of Korea 2Department of Pharmacy, Quaid-i-Azam University, Islamabad 45320, Pakistan Correspondence should be addressed to Song Ja Kim; [email protected] Received 14 May 2016; Revised 24 June 2016; Accepted 26 June 2016 Academic Editor: Magali Cucchiarini Copyright © 2016 Abdul-Rehman Phull et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Chondrocytes are the exclusive cells residing in cartilage and maintain the functionality of cartilage tissue. Series of biocomponents such as different growth factors, cytokines, and transcriptional factors regulate the mesenchymal stem cells (MSCs) differentiation to chondrocytes. The number of chondrocytes and dedifferentiation are the key limitations in subsequent clinical application of the chondrocytes. Different culture methods are being developed to overcome such issues. Using tissue engineering and cell based approaches, chondrocytes offer prominent therapeutic option specifically in orthopedics for cartilage repair and to treat ailments such as tracheal defects, facial reconstruction, and urinary incontinence. Matrix-assisted autologous chondrocyte transplantation/implantation is an improved version of traditional autologous chondrocyte transplantation (ACT) method. An increasing number of studies show the clinical significance of this technique for the chondral lesions treatment.
    [Show full text]
  • 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.
    [Show full text]
  • 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.
    [Show full text]
  • Osteomalacia and Osteoporosis D
    Postgrad. med.J. (August 1968) 44, 621-625. Postgrad Med J: first published as 10.1136/pgmj.44.514.621 on 1 August 1968. Downloaded from Osteomalacia and osteoporosis D. B. MORGAN Department of Clinical Investigation, University ofLeeds OSTEOMALACIA and osteoporosis are still some- in osteomalacia is an increase in the alkaline times confused because both diseases lead to a phosphatase activity in the blood (SAP); there deficiency of calcium which can be detected on may also be a low serum phosphorus or a low radiographs of the skeleton. serum calcium. This lack of calcium is the only feature Our experience with the biopsy of bone is that common to the two diseases which are in all a large excess of uncalcified bone tissue (osteoid), other ways easily distinguishable. which is the classic histological feature of osteo- malacia, is only found in patients with the other Osteomalacia typical features of the disease, in particular the Osteomalacia will be discussed first, because it clinical ones (Morgan et al., 1967a). Whether or is a clearly defined disease which can be cured. not more subtle histological techniques will detect Osteomalacia is the result of an imbalance be- earlier stages of the disease remains to be seen. tween the supply of and the demand for vitamin Bone pains, muscle weakness, Looser's zones, D. The the following description of disease is raised SAP and low serum phosphate are the Protected by copyright. based on our experience of twenty-two patients most reliable aids to the diagnosis of osteomalacia, with osteomalacia after gastrectomy; there is no and approximately in that order.
    [Show full text]
  • 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.
    [Show full text]
  • 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.
    [Show full text]
  • Studies on Brain and Spinal Cord Tumors
    Studies on Brain and Spinal Cord Tumors Chapter 1 Osteochondroma of the Spine Iraj Lotfinia Professor of Neurosurgery, Tabriz Universsity of medical science, Tabriz, Iran. Fax: 00984113340830; Email: [email protected] Abstract Osteochondroma (OC) is the most common benign tumor of the bones, and it remains the most common precursor for secondary chondrosarcoma, which often occurs in the long bones’ metaphyseal areas. Rarely, it is also found in the spine. This tumor comprises a cartilage capped bone projection and is observed in both solitary and multiple forms. In many cases, the lesion can be definitively diagnosed according to radiological characteristics, but the rarity of these lesions in the spine, gradual onset of symptoms, and the frequent lack of observation of lesions in plain radiography may delay the diagnosis or cause misdiagnosis. These lesions are be- nign and do not risk the patient’s life; however, they rarely may be found to be a malignant degeneration that transformed into chondrosarcoma. When the lesion has led to clinical symptoms or has faced the patient with cosmetic challenges, or when definitive diagnosis is unknown, treatment is required. The primary treatment is the surgical removal of the lesion. Timely diagnosis and complete resection of the le- sion using surgery lead to complete recovery and prevent recurrence. 1. Introduction According to the World Health Organization’s (WHO’s) definition in 2002, osteocar- tilaginous exostosis are benign bone neoplasms covered by a cartilaginous cap created at the outer surface of the bone by endochondral ossification [1]. Osteochondroma (OC) is the most common benign primary tumor of the bone.
    [Show full text]
  • 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.
    [Show full text]
  • Immunopathologic Studies in Relapsing Polychondritis
    Immunopathologic Studies in Relapsing Polychondritis Jerome H. Herman, Marie V. Dennis J Clin Invest. 1973;52(3):549-558. https://doi.org/10.1172/JCI107215. Research Article Serial studies have been performed on three patients with relapsing polychondritis in an attempt to define a potential immunopathologic role for degradation constituents of cartilage in the causation and/or perpetuation of the inflammation observed. Crude proteoglycan preparations derived by disruptive and differential centrifugation techniques from human costal cartilage, intact chondrocytes grown as monolayers, their homogenates and products of synthesis provided antigenic material for investigation. Circulating antibody to such antigens could not be detected by immunodiffusion, hemagglutination, immunofluorescence or complement mediated chondrocyte cytotoxicity as assessed by 51Cr release. Similarly, radiolabeled incorporation studies attempting to detect de novo synthesis of such antibody by circulating peripheral blood lymphocytes as assessed by radioimmunodiffusion, immune absorption to neuraminidase treated and untreated chondrocytes and immune coprecipitation were negative. Delayed hypersensitivity to cartilage constituents was studied by peripheral lymphocyte transformation employing [3H]thymidine incorporation and the release of macrophage aggregation factor. Positive results were obtained which correlated with periods of overt disease activity. Similar results were observed in patients with classical rheumatoid arthritis manifesting destructive articular changes. This study suggests that cartilage antigenic components may facilitate perpetuation of cartilage inflammation by cellular immune mechanisms. Find the latest version: https://jci.me/107215/pdf Immunopathologic Studies in Relapsing Polychondritis JERoME H. HERmAN and MARIE V. DENNIS From the Division of Immunology, Department of Internal Medicine, University of Cincinnati Medical Center, Cincinnati, Ohio 45229 A B S T R A C T Serial studies have been performed on as hematologic and serologic disturbances.
    [Show full text]