Radiology of Systemic Disorders Affecting the Foot and Ankle
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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. -
Soft Tissue Calcification and Ossification
Soft Tissue Calcification and Ossification Soft-tissue Calcification Metastatic Calcification =deposit of calcium salts in previously normal tissue (1) as a result of elevation of Ca x P product above 60-70 (2) with normal Ca x P product after renal transplant Location:lung (alveolar septa, bronchial wall, vessel wall), kidney, gastric mucosa, heart, peripheral vessels Cause: (a)Skeletal deossification 1.1° HPT 2.Ectopic HPT production (lung / kidney tumor) 3.Renal osteodystrophy + 2° HPT 4.Hypoparathyroidism (b)Massive bone destruction 1.Widespread bone metastases 2.Plasma cell myeloma 3.Leukemia Dystrophic Calcification (c)Increased intestinal absorption =in presence of normal serum Ca + P levels secondary to local electrolyte / enzyme alterations in areas of tissue injury 1.Hypervitaminosis D Cause: 2.Milk-alkali syndrome (a)Metabolic disorder without hypercalcemia 3.Excess ingestion / IV administration of calcium salts 1.Renal osteodystrophy with 2° HPT 4.Prolonged immobilization 2.Hypoparathyroidism 5.Sarcoidosis 3.Pseudohypoparathyroidism (d)Idiopathic hypercalcemia 4.Pseudopseudohypoparathyroidism 5.Gout 6.Pseudogout = chondrocalcinosis 7.Ochronosis = alkaptonuria 8.Diabetes mellitus (b) Connective tissue disorder 1.Scleroderma 2.Dermatomyositis 3.Systemic lupus erythematosus (c)Trauma 1.Neuropathic calcifications 2.Frostbite 3.Myositis ossificans progressiva 4.Calcific tendinitis / bursitis (d)Infestation 1.Cysticercosis Generalized Calcinosis 2.Dracunculosis (guinea worm) (a)Collagen vascular disorders 3.Loiasis 1.Scleroderma -
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. -
(Ollier Disease, Maffucci Syndrome) Is Not Caused by the PTHR1 Mutation
Enchondromatosis (Ollier Disease, Maffucci Syndrome) Is Not Caused by the PTHR1 Mutation p.R150C Bovée, J.V.M.G.; Rozeman, L.B.; Sangiorgi, L.; Briaire-de Bruijn, I.H.; Mainil-Varlet, P.; Bertoni, F.; ... ; Hogendoorn, P.C.W. Citation Bovée, J. V. M. G., Rozeman, L. B., Sangiorgi, L., Briaire-de Bruijn, I. H., Mainil-Varlet, P., Bertoni, F., … Hogendoorn, P. C. W. (2004). Enchondromatosis (Ollier Disease, Maffucci Syndrome) Is Not Caused by the PTHR1 Mutation p.R150C. Human Mutation, 24, 466-473. Retrieved from https://hdl.handle.net/1887/8144 Version: Not Applicable (or Unknown) License: Downloaded from: https://hdl.handle.net/1887/8144 Note: To cite this publication please use the final published version (if applicable). HUMAN MUTATION 24:466^473 (2004) RAPID COMMUNICATION Enchondromatosis (Ollier Disease, Maffucci Syndrome) Is Not Caused by the PTHR1 Mutation p.R150C Leida B. Rozeman,1 Luca Sangiorgi,2 Inge H. Briaire-de Bruijn,1 Pierre Mainil-Varlet,3 F. Bertoni,4 Anne Marie Cleton-Jansen,1 Pancras C.W. Hogendoorn,1 and Judith V.M.G. Bove´e1* 1Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands; 2Laboratory of Oncology Research, Rizzoli Orthopedic Institute, Bologna, Italy; 3Institute of Pathology, University of Bern, Bern, Switzerland; 4Department of Pathology, Rizzoli Orthopedic Institute, Bologna, Italy Communicated by Arnold Munnich Enchondromatosis (Ollier disease, Maffucci syndrome) is a rare developmental disorder characterized by multiple enchondromas. Not much is known about its molecular genetic background. Recently, an activating mutation in the parathyroid hormone receptor type 1 (PTHR1) gene, c.448C>T (p.R150C), was reported in two of six patients with enchondromatosis. -
Blueprint Genetics Comprehensive Growth Disorders / Skeletal
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Test code: MA4301 Is a 374 gene panel that includes assessment of non-coding variants. This panel covers the majority of the genes listed in the Nosology 2015 (PMID: 26394607) and all genes in our Malformation category that cause growth retardation, short stature or skeletal dysplasia and is therefore a powerful diagnostic tool. It is ideal for patients suspected to have a syndromic or an isolated growth disorder or a skeletal dysplasia. About Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders This panel covers a broad spectrum of diseases associated with growth retardation, short stature or skeletal dysplasia. Many of these conditions have overlapping features which can make clinical diagnosis a challenge. Genetic diagnostics is therefore the most efficient way to subtype the diseases and enable individualized treatment and management decisions. Moreover, detection of causative mutations establishes the mode of inheritance in the family which is essential for informed genetic counseling. For additional information regarding the conditions tested on this panel, please refer to the National Organization for Rare Disorders and / or GeneReviews. Availability 4 weeks Gene Set Description Genes in the Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ACAN# Spondyloepimetaphyseal dysplasia, aggrecan type, AD/AR 20 56 Spondyloepiphyseal dysplasia, Kimberley -
Osteochondrosis – Primary Epiphyseal (Articular/Subchondral) Lesion Can Heal Or Can Progress
60 120 180 1 distal humeral condyles 2 medial epicondyle 3 proximal radial epiphysis 4 anconeal process Lab Ret study N=1018 . Normal . Affected . Total 688 (67.6%) . Total 330 (32.4%) . Male 230 (62.2%) . Male 140 (37.8%) . Female 458 (70.7%) . Female 190 (29.3%) Affected dogs N=330 1affected site - 250 (75.7%) 2 affected sites - 68 (20.6%) 3 affected sites - 12 (3.6%) immature skeletal diseases denis novak technique for skeletal radiography tissue < 12 cm “non-grid” (“table-top”) technique “high detail” system radiation safety diagnosis X – rays examination Ultrasound CT bilateral lesions - clinical signs ? unilateral present > one type of lesion 2ry arthrosis Common Osteochondrosis – primary epiphyseal (articular/subchondral) lesion can heal or can progress Osteochondritis dissecans – free articular fragment will progress Arthrosis Osteochondrosis talus / tarsus Lumbosacral OCD Lumbosacral OCD Inflammatory diseases Panosteitis – non infectious Hypertrophic osteodystrophy (HOD) – perhaps infectious Osteomyelitis - infectious Panosteitis New medullary bone Polyostotic Multiple lesions in one bone Symmetrical or nonsymmetrical Sclerotic pattern B I L A T E R A L periosteal new bone forms with chronicity Cross sections of a tibia different locations Hypertrophic osteodystrophy (HOD) Dogs are systemically ill, febrile, anorectic, reluctant to walk most will recover Radiographic changes of HOD . Polyostotic . Metaphyseal . Symmetrical . Changes of lesion Early Mid Late lytic “plates” in acute case HOD - 4 m ret – lesions are present -
Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders
Comprehensive Skeletal Dysplasias and Disorders Panel Test code: MA3301 Is a 251 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of disorders involving the skeletal system. About Comprehensive Skeletal Dysplasias and Disorders This panel covers a broad spectrum of skeletal disorders including common and rare skeletal dysplasias (eg. achondroplasia, COL2A1 related dysplasias, diastrophic dysplasia, various types of spondylo-metaphyseal dysplasias), various ciliopathies with skeletal involvement (eg. short rib-polydactylies, asphyxiating thoracic dysplasia dysplasias and Ellis-van Creveld syndrome), various subtypes of osteogenesis imperfecta, campomelic dysplasia, slender bone dysplasias, dysplasias with multiple joint dislocations, chondrodysplasia punctata group of disorders, neonatal osteosclerotic dysplasias, osteopetrosis and related disorders, abnormal mineralization group of disorders (eg hypopohosphatasia), osteolysis group of disorders, disorders with disorganized development of skeletal components, overgrowth syndromes with skeletal involvement, craniosynostosis syndromes, dysostoses with predominant craniofacial involvement, dysostoses with predominant vertebral involvement, patellar dysostoses, brachydactylies, some disorders with limb hypoplasia-reduction defects, ectrodactyly with and without other manifestations, polydactyly-syndactyly-triphalangism group of disorders, and disorders with defects in joint formation and synostoses. Availability 4 weeks Gene Set Description -
Hyperostosis Corticalis Infantalis (Caffey's Disease)* J
754 S.A. TYDSKRIF VIR GENEESKU DE 14 Junie 1969 HYPEROSTOSIS CORTICALIS INFANTALIS (CAFFEY'S DISEASE)* J. M. WAGNER, M.B., B.CH., M.R.e.p., Senior Paediatrician, Edenvale Hospital, AND A. SoLOMON, M.B., B.CH., DIP.MED., D.M.R.(D.), Radiologist, Pneumoconiosis Research Unit, CSIR, Baragwanath Hospital, Johannesburg Infantile cortical hyperostosis is a disorder affecting the skeleton and some of its contiguous fascias and muscles. It is suggested that infantile cortical hyperostosis is a pre natal collagen disease.' The early stage is of acute inflammation and loss of the periosteal and subperiosteal definition. There is a fibrous and osteoblastic reaction and overlying tissue including muscle is involved. No bacteria are seen. Later, there is subperiosteal new lamellar bone formation. The peri osteum is thickened and hyperplastic and the overlying soft tissues are oedematous and sections show round-cell infiltration. The subacute phase re-establishes periosteum as an entity. The later remodelling stage removes the extraperipheral bone from within, resulting in dilatation of the medullary cavity. There is evidence to suggest that infantile cortical hyper ostosis had been recognized in 1930.' Caffey and Silver man first described the disease in 1946." Smyth et al.' also recorded cases in 1946. Altogether 102 cases have been reported, Sidbury and Sidbury' contributing 69 reports and Holrnan' describing 33 cases. Infantile cortical hyper ostosis has been described in Negroes but seems rare in the South African Bantu. CASE REPORT The patient, a 3-year-old Bantu male, had a normal birth weight. Two siblings were in good health. The mother stated that the child's jaw was swollen and that he had Fig. -
Soonerstart Automatic Qualifying Syndromes and Conditions
SoonerStart Automatic Qualifying Syndromes and Conditions - Appendix O Abetalipoproteinemia Acanthocytosis (see Abetalipoproteinemia) Accutane, Fetal Effects of (see Fetal Retinoid Syndrome) Acidemia, 2-Oxoglutaric Acidemia, Glutaric I Acidemia, Isovaleric Acidemia, Methylmalonic Acidemia, Propionic Aciduria, 3-Methylglutaconic Type II Aciduria, Argininosuccinic Acoustic-Cervico-Oculo Syndrome (see Cervico-Oculo-Acoustic Syndrome) Acrocephalopolysyndactyly Type II Acrocephalosyndactyly Type I Acrodysostosis Acrofacial Dysostosis, Nager Type Adams-Oliver Syndrome (see Limb and Scalp Defects, Adams-Oliver Type) Adrenoleukodystrophy, Neonatal (see Cerebro-Hepato-Renal Syndrome) Aglossia Congenita (see Hypoglossia-Hypodactylia) Aicardi Syndrome AIDS Infection (see Fetal Acquired Immune Deficiency Syndrome) Alaninuria (see Pyruvate Dehydrogenase Deficiency) Albers-Schonberg Disease (see Osteopetrosis, Malignant Recessive) Albinism, Ocular (includes Autosomal Recessive Type) Albinism, Oculocutaneous, Brown Type (Type IV) Albinism, Oculocutaneous, Tyrosinase Negative (Type IA) Albinism, Oculocutaneous, Tyrosinase Positive (Type II) Albinism, Oculocutaneous, Yellow Mutant (Type IB) Albinism-Black Locks-Deafness Albright Hereditary Osteodystrophy (see Parathyroid Hormone Resistance) Alexander Disease Alopecia - Mental Retardation Alpers Disease Alpha 1,4 - Glucosidase Deficiency (see Glycogenosis, Type IIA) Alpha-L-Fucosidase Deficiency (see Fucosidosis) Alport Syndrome (see Nephritis-Deafness, Hereditary Type) Amaurosis (see Blindness) Amaurosis -
Resection of Cervical Juxtacortical Chondroma and Circumferential Spinal Stabilization for Kyphotic Deformity
Open Access Case Report DOI: 10.7759/cureus.4523 Resection of Cervical Juxtacortical Chondroma and Circumferential Spinal Stabilization for Kyphotic Deformity J. Manuel Sarmiento 1 , Omar Medina 2 , Angelique Sao-Mai S. Do 1 , Shimon Farber 3 , Ray M. Chu 1 1. Neurosurgery, Cedars-Sinai Medical Center, Los Angeles, USA 2. Orthopedic Surgery, Harbor-University of California Los Angeles Medical Center, Los Angeles, USA 3. Pathology, Cedars-Sinai Medical Center, Los Angeles, USA Corresponding author: J. Manuel Sarmiento, [email protected] Abstract Chondromas are rare, benign tumors composed of cartilaginous tissue that mainly affect the metaphases of long tubular bones. Juxtacortical (periosteal) chondromas arise from the surface of periosteum and rarely affect the cervical spine. We present a patient with a spinal juxtacortical chondroma causing spinal cord compression and a cervical deformity treated with surgical resection and circumferential spinal fixation and stabilization. A 55-year-old female with past medical history of Crohn’s disease with years of neck pain, balance issues, and left upper extremity radicular symptoms. Cervical spine x-rays show kyphosis with an apex at C5, degenerative changes of the endplates and facet joints, and grade 2 anterolisthesis C4 on C5 with no abnormal motion with flexion/extension. MRI showed a left sided C5-6 extramedullary mass measuring 11 x 11 x 15 mm causing spinal cord compression and neural foraminal narrowing. Her pain is worsening and refractory to physical therapy, gabapentin and methocarbamol. A C4-5 & C5-6 anterior cervical discectomy and fusion, C4-5 & C5-6 laminectomy for tumor resection, and C4-5 & C5-6 posterior fusion with instrumentation was performed. -
Orphanet Journal of Rare Diseases Biomed Central
Orphanet Journal of Rare Diseases BioMed Central Review Open Access Ollier disease Caroline Silve*1 and Harald Jüppner2 Address: 1INSERM U. 773, Faculté de Médecine Xavier Bichat, 16 rue Henri Huchard, 75018 Paris, France and 2Endocrine Unit, Department of Medicine, and Pediatric Neprology Unit, MassGeneral Hospital for Children, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA Email: Caroline Silve* - [email protected]; Harald Jüppner - [email protected] * Corresponding author Published: 22 September 2006 Received: 31 July 2006 Accepted: 22 September 2006 Orphanet Journal of Rare Diseases 2006, 1:37 doi:10.1186/1750-1172-1-37 This article is available from: http://www.OJRD.com/content/1/1/37 © 2006 Silve and Jüppner; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Enchondromas are common intraosseous, usually benign cartilaginous tumors, that develop in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondromatosis also known as Ollier disease (WHO terminology). The estimated prevalence of Ollier disease is 1/100,000. Clinical manifestations often appear in the first decade of life. Ollier disease is characterized by an asymmetric distribution of cartilage lesions and these can be extremely variable (in terms of size, number, location, evolution of enchondromas, age of onset and of diagnosis, requirement for surgery). Clinical problems caused by enchondromas include skeletal deformities, limb-length discrepancy, and the potential risk for malignant change to chondrosarcoma.