ISDS Abstract Book 2005
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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. -
(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. -
EUROCAT Syndrome Guide
JRC - Central Registry european surveillance of congenital anomalies EUROCAT Syndrome Guide Definition and Coding of Syndromes Version July 2017 Revised in 2016 by Ingeborg Barisic, approved by the Coding & Classification Committee in 2017: Ester Garne, Diana Wellesley, David Tucker, Jorieke Bergman and Ingeborg Barisic Revised 2008 by Ingeborg Barisic, Helen Dolk and Ester Garne and discussed and approved by the Coding & Classification Committee 2008: Elisa Calzolari, Diana Wellesley, David Tucker, Ingeborg Barisic, Ester Garne The list of syndromes contained in the previous EUROCAT “Guide to the Coding of Eponyms and Syndromes” (Josephine Weatherall, 1979) was revised by Ingeborg Barisic, Helen Dolk, Ester Garne, Claude Stoll and Diana Wellesley at a meeting in London in November 2003. Approved by the members EUROCAT Coding & Classification Committee 2004: Ingeborg Barisic, Elisa Calzolari, Ester Garne, Annukka Ritvanen, Claude Stoll, Diana Wellesley 1 TABLE OF CONTENTS Introduction and Definitions 6 Coding Notes and Explanation of Guide 10 List of conditions to be coded in the syndrome field 13 List of conditions which should not be coded as syndromes 14 Syndromes – monogenic or unknown etiology Aarskog syndrome 18 Acrocephalopolysyndactyly (all types) 19 Alagille syndrome 20 Alport syndrome 21 Angelman syndrome 22 Aniridia-Wilms tumor syndrome, WAGR 23 Apert syndrome 24 Bardet-Biedl syndrome 25 Beckwith-Wiedemann syndrome (EMG syndrome) 26 Blepharophimosis-ptosis syndrome 28 Branchiootorenal syndrome (Melnick-Fraser syndrome) 29 CHARGE -
SKELETAL DYSPLASIA and HOMOEOPATHY Skeletal Dysplasia and Homoeopathy SKELETAL DYSPLASIA and HOMOEOPATHY
DR. RAJNEESH KUMAR SHARMA MD (HOMOEOPATHY) DR. SWATI VISHNOI BHMS DR. PREETIKA LAKHERA BHMS SKELETAL DYSPLASIA AND HOMOEOPATHY Skeletal Dysplasia and Homoeopathy SKELETAL DYSPLASIA AND HOMOEOPATHY © Dr. Rajneesh Kumar Sharma MD (Homoeopathy) Dr. Swati Vishnoi BHMS Dr. Preetika Lakhera BHMS Homoeo Cure Research Institute NH 74- Moradabad Road Kashipur (UTTARANCHAL) - INDIA Ph- 09897618594 E. mail- [email protected] www.treatmenthomeopathy.com www.homeopathyworldcommunity.com CONTENTS Definition..................................................................................................................................... 2 Etymology ................................................................................................................................... 2 Causes ........................................................................................................................................ 2 Types .......................................................................................................................................... 2 Achondrogenesis ..................................................................................................................... 3 Achondroplasia ........................................................................................................................ 3 Hypochondroplasia ............................................................................................................... 3 Thanatophoric dysplasia ...................................................................................................... -
Genetic and Developmental Disorders of the Oral Mucosa: Epidemiology; Molecular Mechanisms; Diagnostic Criteria; Management
DOI: 10.1111/prd.12261 REVIEW ARTICLE Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management Roberto Pinna1 | Fabio Cocco1,2 | Guglielmo Campus1,2,3 | Giulio Conti4 | Egle Milia1 | Andrea Sardella4,5 | Maria Grazia Cagetti2,5 1Department of Surgery, Medicine and Experimental Sciences, University of Sassari, Sassari, Italy 2WHO Collaboration Centre for Epidemiology and Community Dentistry, University of Milan, Milan, Italy 3Klinik für Zahnerhaltung, Präventiv-und Kinderzahnmedizin Zahnmedizinische Kliniken (ZMK), University of Bern, Switzerland 4IRCCS “Ca Granda-Ospedale Maggiore”, University of Milan, Milan, Italy 5Department of Biomedical, Surgical and Dental Science, University of Milan, Milan, Italy Correspondence Guglielmo Campus, Prof Guglielmo Campus Klinik für Zahnerhaltung, Präventiv-und Kinderzahnmedizin Zahnmedizinische Kliniken (ZMK) University of Bern, Freiburgstrasse 7, Bern, Switzerland. Emails: [email protected]; [email protected] 1 | INTRODUCTION exact prevalence is unknown, but the syndrome seems more common among the Amish community. This rare condition is inherited as an Oral mucosal lesions may appear as ulcers, color changes and altera- autosomal recessive trait with a variable expression. Mutations of the tions in size and configuration of oral anatomy. This review presents Ellis van Creveld protein 1 and 2 genes, located in a head- to- head con- a broad overview of genetic and developmental disorders of the figuration on chromosome 4p16, have been identified as causative.6,7 oral mucosa that might be recognized in children, adults and the el- The mutations of Ellis van Creveld belong to the short rib- polydactyly derly.1-3 A number of genetic disorders (Table 1) have specific mani- group and especially type III (Verma- Naumoff syndrome). -
Radiological Diagnosis of the Constitutional Disorders of Bone. As Easy As A, B, C?
Pediatr Radiol (2003) 33: 153–161 DOI 10.1007/s00247-002-0855-8 REVIEW Amaka C. Offiah Radiological diagnosis of the constitutional Christine M. Hall disorders of bone. As easy as A, B, C? Abstract Although many constitu- and the dysostoses, and provides a Received: 6 September 2002 Revised: 4 November 2002 tional disorders of bone are systematic approach to their radi- Accepted: 6 November 2002 individually rare, collectively they ological diagnosis. Published online: 20 December 2002 make up a large group of disorders. Ó Springer-Verlag 2002 They are broadly classified into osteochondrodysplasias and dysos- Originally presented as a workshop at the toses. Because of the rarity of some 39th Annual Congress of the ESPR, of these conditions, they can be dif- Bergen, June 2002 ficult to diagnose. Members of the International Dysplasia Group meet A. C. Offiah (&) Æ C. M. Hall regularly to update and clarify the Department of Radiology, nomenclature. The last meeting was Great Ormond Street Hospital for Children, London, WC1N3JH, UK in Oxford in 2001. This article at- Keywords Osteochondrodysplasia Æ E-mail: amaka.offi[email protected] tempts to highlight the differences Dysostosis Æ Nomenclature Tel.: +44-20-74059200 ext. 5084 between the osteochondrodysplasias Radiological diagnosis Introduction It is hoped that this approach will be particularly useful to radiology trainees by eliminating some of the During the course of their training programme, most mystery associated with the diagnosis of these condi- radiology residents are taught systematic approaches to tions. analysing plain radiographs of such conditions as bone tumours and arthritic diseases, but very little is taught (or written) on the approach to diagnosing skeletal dysplasias Nomenclature and other constitutional disorders of bone. -
Maffucci Syndrome
Maffucci syndrome Description Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures. The signs and symptoms of Maffucci syndrome may be detectable at birth, although they generally do not become apparent until around the age of 5. Enchondromas develop near the ends of bones, where normal growth occurs, and they frequently stop forming after affected individuals stop growing in early adulthood. As a result of the bone deformities associated with Maffucci syndrome, people with this disorder generally have short stature and underdeveloped muscles. Maffucci syndrome is distinguished from a similar disorder that involves enchondromas ( Ollier disease) by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas). In addition to hemangiomas, individuals with Maffucci syndrome occasionally also have lymphangiomas, which are masses made up of the thin tubes that carry lymph fluid (lymphatic vessels). These growths may appear anywhere on the body. Although the enchondromas associated with Maffucci syndrome start out as benign, they may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. People with Maffucci syndrome also have an increased risk of other cancers, such as ovarian or liver cancer. -
Enchondromatosis (Maffucci Syndrome; Ollier Syndrome)
Enchondromatosis (Maffucci Syndrome; Ollier Syndrome) Enchondromas are benign cartilaginous growth in the i. Bony or soft tissue abnormalities at birth in 27% intramedullary region of the bones. When two or more bones of cases are affected with enchondromas, the condition is called mul- ii. Average age of onset: 4 years (ranging from birth tiple enchondromatosis. Maffucci first described the syn- to 30 years of age) drome of multiple enchondromas and subcutaneous heman- b. Skeletal lesions: multiple enchondromas giomas in 1881, eighteen years before Ollier described multiple i. Can occur anywhere in the body enchondromatosis. ii. Most commonly in the hands, followed by tibia/fibula, foot, femur, humerus, radius/ulna, ribs, GENETICS/BASIC DEFECTS pelvis, scapula, and head 1. Inheritance iii. Common long bone involvement a. Maffucci syndrome iv. Kyphoscoliosis caused by direct involvement of i. Not hereditary the spine ii. A congenital disorder v. Progressive skeletal deformities b. Ollier syndrome a) Enlarged fingers i. Not hereditary b) Bowed legs ii. A congenital disorder c) Asymmetric limb shortening c. Obvious inheritance of enchondromatosis: unusual d) Pathological fractures d. No candidate loci identified vi. High incidence (23%) of malignancies, especially e. Ollier syndrome and Maffucci syndrome: possibly a chondrosarcomas (15%) which lead to greater spectrum of the same disease process. The latter condi- tissue destruction tion is complicated by vascular anomalies and heman- vii. Vascular malignancies may occur occasionally giomas c. Vascular lesions: subcutaneous and sometimes visceral 2. Basic defect and pathogenesis hemangiomas a. Enchondromas believed to be a part of a generalized i. Occur anywhere in the body mesodermal dysplasia ii. -
Prevalence of Rare Diseases: Bibliographic Data
Prevalence distribution of rare diseases 200 180 160 140 120 100 80 Number of diseases 60 November 2009 40 May 2014 Number 1 20 0 0 5 10 15 20 25 30 35 40 45 50 Estimated prevalence (/100000) Prevalence of rare diseases: Bibliographic data Listed in alphabetical order of disease or group of diseases www.orpha.net Methodology A systematic survey of the literature is being Updated Data performed in order to provide an estimate of the New information from available data sources: EMA, prevalence of rare diseases in Europe. An updated new scientific publications, grey literature, expert report will be published regularly and will replace opinion. the previous version. This update contains new epidemiological data and modifications to existing data for which new information has been made Limitation of the study available. The exact prevalence rate of each rare disease is difficult to assess from the available data sources. Search strategy There is a low level of consistency between studies, a poor documentation of methods used, confusion The search strategy is carried out using several data between incidence and prevalence, and/or confusion sources: between incidence at birth and life-long incidence. - Websites: Orphanet, e-medicine, GeneClinics, EMA The validity of the published studies is taken for and OMIM ; granted and not assessed. It is likely that there - Registries, RARECARE is an overestimation for most diseases as the few - Medline is consulted using the search algorithm: published prevalence surveys are usually done in «Disease names» AND Epidemiology[MeSH:NoExp] regions of higher prevalence and are usually based OR Incidence[Title/abstract] OR Prevalence[Title/ on hospital data. -
Boards' Fodder
boards’ fodder Bones, Eyes, and Nails With contributions from Elise M. Herro, MD, Benjamin A. Solky, MD, and Jennifer L. Jones, MD. (Updated July 2015*) CONDITION INHERITANCE: GENE BONE EYES NAILS 5-FU,AZT, antimalarials Blue lunulae Acne Fulminans Osteolytic Lesions (sterno- clavicular) AEC (Ankyloblepharon AD: p63 Anodontia/hypodontia Ankyloblepharon (strands of Onychodysplasia or anonychia filiforme adenatum- skin), lacrimal duct abnormalities Ectodermal dysplasia-Cleft palate) [Hay-Wells Syndrome] Albright’s Osteodystrophy Bradymetacarpalism Alkaptonuria AR: homogentisate Severe arthropathy (larger Pingueculae, Osler’s Sign (blue- 1,2-dioxygenase (HGO) joints) gray scleral pigment) Allezandrini Syndrome Unilateral retinitis pigmentosa, eyelash poliosis Alopecia Areata Nail Pits, Red and Spotted Lunula Apert’s Syndrome FGFR2 Craniosynostosis, syndactyly One large fingernail Argyria Blue Sclera Slate Blue Lunula Arsenic poisoning, rheumatic Mee’s Lines (all nails) fever, CHF Ataxia-Telangiectasia (Louis- AR: ataxia-telangiectasia Bulbar Telangiectasia Bar Syndrome) mutated (ATM) Bacterial Infection Black nail (Proteus mirabilis); Green nail (Pseudomonas) Beare-Stevenson Cutis Gyrata FGFR2 Craniosynostosis Syndrome Behçet’s Syndrome A/w HLA-B51 Asymmetric, non-erosive Retinal vasculitis, posterior polyarthritis uveitis, & hypopyon Bonnet Dechaune Blanc Unknown Retinal AVM’s Syndrome (Wyburn-Mason) Bushke-Ollendorf Syndrome AD: LEMD3 or MAN1 Osteopoikolosis Chanarin-Dorfman Syndrome ABHD5 Short stature Cataracts, nystagmus, ectropion -
Boards' Fodder
boards’ fodder Eponyms in Dermatology by Heather Kiraly Orkwis, DO. (Updated July 2015*) Aleppo/Baghdad/Delhi boil = Conradi-Hünermann syndrome Hutchinson’s sign = pigmenta- lesion of cutaneous leishmaniasis = XLD chondrodysplasia punctata (EBP tion of proximal nail fold, suggestive of gene) melanoma Asboe-Hansen sign = extension of intact blister when pressure is applied to Crowe’s sign = axillary or inguinal Janeway lesions = non-painful roof; seen in pemphigus vulgaris freckling seen in neurofibromatosis hemorrhagic macules or nodules of palms and soles, seen in infective Auspitz’s sign = punctate bleeding Darier disease = Keratosis follicu- endocarditis points within lesion upon scratching; laris (ATP2A2) seen in psoriasis Kasabach-Merritt syndrome = Darier’s sign = urtication following consumptive coagulopathy within a Bateman purpura = actinic (solar) rubbing of macule/papule in mastocyto- kaposiform hemangioendothelioma or purpura sis (urticaria pigmentosa) tufted angioma Bazex syndrome, acquired = Dennie-Morgan lines = crescentic Klippel-Trenaunay syndrome acrokeratosis paraneoplastica creases of lower eyelids due to stagna- = angio-osteohypertrophy syndrome; Bazex syndrome (Bazex–Du- tion of venous blood, seen in atopic port-wine stain, soft tissue and bony pré–Christol Syndrome), XLD = dermatitis hypertrophy, venous and lymphatic malformations follicular atrophoderma, multiple BCCs, Degos’ disease = malignant atrophic hypotrichosis, localized hypohidrosis papulosis Koplik’s spots = small, white spots on erythematous buccal mucosa,