Benign Bone Tumors of the Foot and Ankle
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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. -
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. -
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. -
Tuberculosis – the Masquerader of Bone Lesions in Children MN Rasool FCS(Orth) Department of Orthopaedics, University of Kwazulu-Natal
SAOJ Autumn 2009.qxd 2/27/09 11:11 AM Page 21 CLINICAL ARTICLE SA ORTHOPAEDIC JOURNAL Autumn 2009 / Page 21 C LINICAL A RTICLE Tuberculosis – the masquerader of bone lesions in children MN Rasool FCS(Orth) Department of Orthopaedics, University of KwaZulu-Natal Reprint requests: Dr MN Rasool Department of Orthopaedics University of KwaZulu-Natal Private Bag 7 Congella 4001 Tel: (031) 260 4297 Fax: (031) 260 4518 Email: [email protected] Abstract Fifty-three children with histologically confirmed tuberculous osteomyelitis were treated between 1989 and 2007. The age ranged from 1–12 years. There were 65 osseous lesions (excluding spinal and synovial). Seven had mul- tifocal bone involvement. Four basic types of lesions were seen: cystic (n=46), infiltrative (n=7), focal erosions (n=6) and spina ventosa (n=7). The majority of lesions were in the metaphyses (n=36); the remainder were in the diaphysis, epiphysis, short tubular bones, flat bones and small round bones. Bone lesions resembled chronic infections, simple and aneurysmal bone cysts, cartilaginous tumours, osteoid osteoma, haematological bone lesions and certain osteochondroses seen during the same period of study. Histological confirmation is man- datory to confirm the diagnosis of tuberculosis as several bone lesions can mimic tuberculous osteomyelitis. Introduction The variable radiological appearance of isolated bone Tuberculous osteomyelitis is less common than skeletal lesions in children can resemble various bone lesions tuberculosis involving the spine and joints. The destruc- including subacute and chronic osteomyelitis, simple and tive bone lesions of tuberculosis, the disseminated and the aneurysmal bone cysts, cartilaginous tumours, osteoid multifocal forms, are less common now than they were 50 osteoma, granulomatous lesions, haematological disease, 6,7,12 years ago.1-7 However, in recent series, solitary involve- and certain malignant tumours. -
Management of Unicameral Bone Cyst of Proximal Femur: Experience of 14 Cases and Review of Literature
202 KUWAIT MEDICAL JOURNAL September 2008 Original Article Management of Unicameral Bone Cyst of Proximal Femur: Experience of 14 Cases and Review of Literature Magdy M Abdel-Mota’al, Abdul Salam Othman Mohamad, Kenneth Chukwuka Katchy, Amarnath A Mallur, Fawzy Hamido Ahmad, Barakat El-Alfy Kuwait Medical Journal 2008, 40 (3): 202-210 ABSTRACT Objective: To assess the results of surgical treatment Main Outcome Measures: Patients were followed up of unicameral bone cyst (UBC) involving the proximal post-operatively for an average period of 42 months (range femur = 9–120 months). They were observed for recurrence, Design: Retrospective study of 14 cases of UBC of complications and fracture healing. proximal femur Results: Recurrence was observed in one case while other Setting: Al-Razi Orthopedic Hospital, Kuwait cases showed healing of the cyst with consolidation and Subjects and Methods: Fourteen cases of UBC seen and varying degrees of remodeling in one years time. A case treated at Al-Razi hospital were included in the study. developed mal-union and growth arrest with subsequent Their presentation and the method of treatment were shortening. Avascular necrosis and coxa vara was recorded. detected in another case. All the fractures healed in the Intervention: Thirteen cases were treated surgically using usual expected time according to age. intra-lesional excision (ILE). The cavity was filled with Conclusion: UBC of the proximal femur exhibits unique autogenous bone graft in three cases, hydroxyapatite characters and complications. Hydroxyapatite matrix matrix (HA) in eight cases, and combined autogenous is a useful and effective bone substitute. Post-excision graft and hydroxyapatite matrix in two cases. -
Musculoskeletal Radiology
MUSCULOSKELETAL RADIOLOGY Developed by The Education Committee of the American Society of Musculoskeletal Radiology 1997-1998 Charles S. Resnik, M.D. (Co-chair) Arthur A. De Smet, M.D. (Co-chair) Felix S. Chew, M.D., Ed.M. Mary Kathol, M.D. Mark Kransdorf, M.D., Lynne S. Steinbach, M.D. INTRODUCTION The following curriculum guide comprises a list of subjects which are important to a thorough understanding of disorders that affect the musculoskeletal system. It does not include every musculoskeletal condition, yet it is comprehensive enough to fulfill three basic requirements: 1.to provide practicing radiologists with the fundamentals needed to be valuable consultants to orthopedic surgeons, rheumatologists, and other referring physicians, 2.to provide radiology residency program directors with a guide to subjects that should be covered in a four year teaching curriculum, and 3.to serve as a “study guide” for diagnostic radiology residents. To that end, much of the material has been divided into “basic” and “advanced” categories. Basic material includes fundamental information that radiology residents should be able to learn, while advanced material includes information that musculoskeletal radiologists might expect to master. It is acknowledged that this division is somewhat arbitrary. It is the authors’ hope that each user of this guide will gain an appreciation for the information that is needed for the successful practice of musculoskeletal radiology. I. Aspects of Basic Science Related to Bone A. Histogenesis of developing bone 1. Intramembranous ossification 2. Endochondral ossification 3. Remodeling B. Bone anatomy 1. Cellular constituents a. Osteoblasts b. Osteoclasts 2. Non cellular constituents a. -
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. -
Massive Axial and Appendicular Skeletal Deformities in Connection with Gorham-Stout Syndrome
Case Report Massive Axial and Appendicular Skeletal Deformities in Connection with Gorham-Stout Syndrome Ali Al Kaissi 1,2,*, Sami Bouchoucha 3, Mohammad Shboul 4, Vladimir Kenis 5, Franz Grill 2, Rudolf Ganger 2 and Susanne Gerit Kircher 6 1 Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, 1090 Vienna, Austria 2 Orthopaedic Hospital of Speising, Paediatric department, 1090 Vienna, Austria; [email protected] (F.G.); [email protected] (R.G.) 3 Paediatric Orthopedic Surgery—Children Hospital, Tunis 1029, Tunis-Tunisia; [email protected] 4 Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan; [email protected] 5 Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Pediatric Orthopedic Institute n.a. H. Turner, Parkovaya str., 64-68, Pushkin, Saint Petersburg, Russia; [email protected] 6 Department of Medical Chemistry, Medical University of Vienna, 1090 Vienna, Austria; [email protected] * Correspondence: [email protected]; Tel. (Fax): +43-180-182-1260 Received: 26 March 2019; Accepted: 5 May 2019; Published: 7 May 2019 Abstract: Background: Etiological understanding is the corner stone in the management of skeletal deformities. Methods: Multi-centre study of patients with deformities in connection with diverse etiological backgrounds. We aimed to study four patients (one boy and three girls) with variable axial and appendicular deformities in connection with a vanishing bone disorder. Results: Axial deformities such as scoliosis, kyphoscoliosis, compressed fused vertebrae, appendicular fractures, dislocations, and vicious disorganization deformities of the joints were in connection with the vanishing bone disorder, namely Gorham-Stout syndrome. -
Secondary Aneurysmal Bone Cyst Developing in Fibrous Dysplasia
Published online: 2021-08-02 27 9-135 Secondary Aneurysmal Bone Cyst Developing In Fibrous Dysplasia R MALIK, VK PANDYA, P AWASTHI Ind J Radiol Imag 2006 16:1:27-28 Key words : Fibrous dysplasia, Secondary aneurysmal bone cyst. Introduction:- and pressure moulding with sclerosis of medial wall of both orbits, both maxillary sinuses & ethmoid air cells An aneurysmal bone cyst (ABC) is not a true neoplasm suggesting slow growth & benignitity of the lesion (Fig and may be a benign reactive vascular lesion. The exact 1). etiology of this tumor is unknown but the descriptive name is derived from the microscopic appearance of a blood The roof of right orbit was elevated & a breech in the base filled, expansile, sponge like tumor containing numerous of anterior cranial fossa on right was seen. giant cells. Aneurysmal bone cysts are known to arise in association with other abnormalities of the skeleton, particularly non ossifying fibroma, fibrous dysplasia and chondromyxoid fibroma. Such lesions have been described as secondary ABCs [1]. They have also been recorded following fractures [1]. The ABCs most commonly involve the metaphyses of long bones or the posterior elements of vertebrae, but the nasal cavity is the extremely rare site [2]. We report an interesting and rare case of secondary ABC developing in fibrous dysplasia in the nasal cavity & nasopharynx. Material and method:- A 13 yrs male child presented with enlarging right nasal mass. Radiograph of nasopharynx lateral view showed a nasal mass also extending posteriorly to obliterate the nasopharyngeal air column. On CT scan (coronal) was seen a large (5.5 X 6cm) mass lesion attached to the base of anterior cranial fossa protruding into nasopharynx, right orbit and right nasal cavity (Fig-1) with deviation of the nasal septum to left side.