21. Nature Publishing Group 3 pp 306 310 A mutant PTH/PTHrP type I receptor in enchondromatosis SevanHopyan 1, 2, 3, 4 , Nalan Gokgoz 2 , Raymond Poon 1 , Robert C. Gensure 5 http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v30/n3/full/ng844.ht

22. Multiple Enchondromatosis: Ollier’s Disease International Pediatrics. Volume 17, Number 4. Clinical Article. Multiple enchondromatosisOllier’s Disease. Neal P. Simon, MD; Michael W. Simon, MD, PhD, FAAP. http://www.int-pediatrics.org/newip/volumes/volume 17/17-4/case/simon.htm

International Pediatrics Volume 17, Number 4 Clinical Article Multiple Enchondromatosis: Ollier’s Disease Neal P. Simon, MD; Michael W. Simon, MD, PhD, FAAP Address reprint requests to Neal P. Simon, MD, 699 West Drive, RR208, Indianapolis, IN 46202. Abstract Multiple enchondromatosis may cause devastating disfigurement and even adversely affect the growth and function of an extremity. Radiographs show typical changes and are generally diagnostic. Surgical intervention is usually warranted and should be sought as soon as the diagnosis is suspected. Approximately 50% of cases of untreated multiple enchondromas undergo malignant sarcomatous transformation. Int Pediatr. 2002;17(4):231-232. Full Article in PDF

23. Re: Olliers Disease/Multiple Enchondromatosis Re Olliers Disease/Multiple enchondromatosis. Follow Ups Re Olliers Disease/Multipleenchondromatosis Scott Misiaszek 004941 1/11/02 (0) Post a Followup. http://www.ollier-maffucci.org/bbs/messages/431.html

Re: Olliers Disease/Multiple Enchondromatosis Follow Ups Post Followup ollier-maffucci Message Board Posted by Rosemarie Rask on August 08, 2001 at 08:15:35: In Reply to: Re: Olliers Disease/Multiple Enchondromatosis posted by Rosemarie Rask on August 08, 2001 at 08:08:58: : : : Hi I'm Tony - I'm 45 years of age, and was about two years of age when my parents noticed a lump on my right index finger. I was referred to an orthopaedic surgeon who diagnosed "overgrown cartilage". I subsequently had surgery when I was about ten years of age. At the age of about twelve, I was referred to a specialist in Liverpool who diagnosed Olliers Disease or multiple enchondromatosis. I was told that the tumours which, by now, were quite numerous, would stop growing "when I stopped growing". No such luck!!! : : : I subsequently had further surgeries on my right hand and eventually had my right index finger amputated in 1980. : : : Since then I have had various scans and biopsies on my right shoulder. This is being monitored closely by a specialist in Liverpool. : : : If you wish to correspond, please e-mail me.

24. Olliers Disease/Multiple Enchondromatosis Olliers Disease/Multiple enchondromatosis. Best wishes. Tony (Cheshire, UK). FollowUps Re Olliers Disease/Multiple enchondromatosis Pink 031235 11/30/01 (0) http://www.ollier-maffucci.org/bbs/messages/388.html

Olliers Disease/Multiple Enchondromatosis Follow Ups Post Followup ollier-maffucci Message Board Posted by Tony on June 16, 2001 at 20:34:14: Hi I'm Tony - I'm 45 years of age, and was about two years of age when my parents noticed a lump on my right index finger. I was referred to an orthopaedic surgeon who diagnosed "overgrown cartilage". I subsequently had surgery when I was about ten years of age. At the age of about twelve, I was referred to a specialist in Liverpool who diagnosed Olliers Disease or multiple enchondromatosis. I was told that the tumours which, by now, were quite numerous, would stop growing "when I stopped growing". No such luck!!! I subsequently had further surgeries on my right hand and eventually had my right index finger amputated in 1980. Since then I have had various scans and biopsies on my right shoulder. This is being monitored closely by a specialist in Liverpool. If you wish to correspond, please e-mail me. Best wishes Tony (Cheshire, UK). Follow Ups: Re: Olliers Disease/Multiple Enchondromatosis Pink Re: Olliers Disease/Multiple Enchondromatosis tricia Re: Olliers Disease/Multiple Enchondromatosis tricia Re: Olliers Disease/Multiple Enchondromatosis Rosemarie Rask Re: Olliers Disease/Multiple Enchondromatosis Rosemarie Rask Re: Olliers Disease/Multiple Enchondromatosis Scott Misiaszek Post a Followup Name: E-Mail: Subject: Comments: : Hi I'm Tony - I'm 45 years of age, and was about two years of age when my parents noticed a lump on my right index finger. I was referred to an orthopaedic surgeon who diagnosed "overgrown cartilage". I subsequently had surgery when I was about ten years of age. At the age of about twelve, I was referred to a specialist in Liverpool who diagnosed Olliers Disease or multiple enchondromatosis. I was told that the tumours which, by now, were quite numerous, would stop growing "when I stopped growing". No such luck!!! : I subsequently had further surgeries on my right hand and eventually had my right index finger amputated in 1980. : Since then I have had various scans and biopsies on my right shoulder. This is being monitored closely by a specialist in Liverpool. : If you wish to correspond, please e-mail me. : Best wishes : Tony (Cheshire, UK).

25. Wheeless' Textbook Of Orthopaedics lesions or metaphyseal lesions which do not cross the growth plate, at least, notuntil growth plate closure; in some cases enchondromatosis will affect http://www.ortho-u.net/o6/93.htm

Main Menu Home Page Multiple Enchodromatosis (Ollier's Disease) - Discussion: - originally was described by Ollier in late 1800's; - characterized by multiple enchondroma lesions primarily located w/ in the metaphyseal regions of tubular bones; - usually diagnosed in childhood; - pts w/ Ollier's dz have increased risk of a secondary chondrosarcoma developing later in life; - risk is about 25% by age 40 yrs; - Clinical Findings: - most pts have bilateral involvement, w/ predominance on one side; - enchondromas most frequently involve the short tubular bones of hands - Radiographs: - in most cases, there will be diaphyseal lesions or metaphyseal lesions which do not cross the growth plate, at least, not until growth plate closure; - in some cases enchondromatosis will affect patients in the metaphyseal and epiphyseal regions; - when enchondromas cross the growth plate, severe limb length deformities and angular deformities will develop; The malignant potential of enchondromatosis Ollier's Disease. An assessment of angular deformity, shortening, and

26. Wheeless' Textbook Of Orthopaedics Main Menu Home Page The malignant potential of enchondromatosis. Schwartz malignant.lesions is indicated in patients who have enchondromatosis. http://www.ortho-u.net/lib4/122.htm

Main Menu Home Page The malignant potential of enchondromatosis. Schwartz-HS; Zimmerman-NB; Simon-MA; Wroble-RR; Millar-EA; Bonfiglio-M J-Bone-Joint-Surg-Am. 1987 Feb; 69(2): 269-74 In a tri-institutional, retrospective study with long-term follow-up, forty-four patients who had multiple enchondromas were identified. Thirty-seven patients did not have hemangiomas (Ollier disease) and seven did (Maffucci syndrome). Of the thirty-seven patients who had Ollier disease, a low-grade chondrosarcoma developed in four; an astrocytoma, in one; and a granulosa-cell ovarian tumor, in one. In four of the seven patients who had Maffucci syndrome, there were six low-grade chondrosarcomas, one high-grade osteosarcoma, one pancreatic adenocarcinoma, one biliary adenocarcinoma, and one astrocytoma. None of the patients in either group died of the skeletal sarcoma, but four of five patients who had a non-skeletal malignant lesion died. From life-table analyses of these patients, we estimated that the incidence of secondary chondrosarcoma in patients who have Ollier disease is about 25 per cent at the age of forty years, and that malignant degeneration is

27. Malignant Progression In Multiple Enchondromatosis (Ollier's Disease): An Autops Malignant progression in multiple enchondromatosis (Ollier's disease)an autopsybased molecular genetic study. Bovee JV, van Roggen http://www.isols.com.br/content/basic_sciences/3n/article248.html

Malignant progression in multiple enchondromatosis (Ollier's disease): an autopsy-based molecular genetic study. Bovee JV, van Roggen JF, Cleton-Jansen AM, Taminiau AH, van der Woude HJ, Hogendoorn PC. Department of Pathology, Leiden University Medical Center, The Netherlands. Search by word More Info

28. A Mutant PTH/PTHrP Type I Receptor In Enchondromatosis. A mutant PTH/PTHrP type I receptor in enchondromatosis. Hopyan S,Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, Bell RS, Juppner http://www.isols.com.br/content/basic_sciences/6n/article631.html

A mutant PTH/PTHrP type I receptor in enchondromatosis. Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, Bell RS, Juppner H, Andrulis IL, Wunder JS, Alman BA. Program in Developmental Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada. Search by word More Info

29. Dorlands Medical Dictionary bile. dyschondroplasia (dys·chon·dro·pla·sia) (dis²kondro-pla¢zhschwa)dys- + chondroplasia 1. enchondromatosis. 2. formerly http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

30. Cartilage Producing Bone Tumours Patients with Ollier's disease (multiple enchondromatosis) or Maffucci's syndrome(multiple enchondromas and hemangiomas) are at much higher risk of http://www.orthoteers.co.uk/Nrujp~ij33lm/Orthtumbone2.htm

Bone Tumour Index Go Back to SYLLABUS Find in this Page: enter a search term and hit 'enter' (may take a few seconds) Search the Orthoteer Site: Cartilage producing Bone Tumours Osteochondroma Enchondroma Chondroblastoma Chondromyxoid Fibroma ... Chondrosarcoma Osteochondroma Cartilage capped bony projection / exostosis Commonest benign tumour of bone Developmental abnormality of the metaphyseal area of any bone formed in cartilage (endochondral ossification) Incidence Accounts for 45% of benign bone tumours 12% of all bone tumours most become evident under 20 years May be solitary or multiple (diaphyseal aclasis) Any bone developing by endochondral ossification may be involved Diaphysial Aclasis Autosomal dominant Disordered endochondral growth Multiple osteochondromas and disordered metaphyseal growth Short stature and bowing of limbs Treat individual lesions as necessary and observe for malignant change Malignancy Risk = ~ 20% overall or 0.2% per lesion Trevor's Disease: Osteochondroma on epiphyseal side of the growth plate Clinically Present with lump or interference of tendon function Excise if troublesome in second decade 50% are distal femur, upper tibia or proximal humerus

31. Dysplasias Hypophosphatemic rickets; Osteogenesis imperfecta; Marfan's; enchondromatosis(Ollier); enchondromatosis. (excess of hypertrophic cartilage). Olliers= multiple. http://www.orthoteers.co.uk/Nrujp~ij33lm/Orthdysplasias.htm

Go Back to SYLLABUS Find in this Page: enter a search term and hit 'enter' (may take a few seconds) Search the Orthoteer Site: SKELETAL DYSPLASIAS Definitions Sir Thomas Fairbank of Edinburgh, Scotland, pioneered the work on skeletal dysplasias in his 1951 book, An Atlas of General Affections of the Skeleton. Dysplasia comes from Latin roots dys and plasia , meaning "bad growth". Therefore, if a patient has bones that are funny-shaped in some way, they are probably dysplastic. Dysplasia is caused by intrinsic bone abnormality. It is the preferred term for dwarfism is used when the developmental changes to the skeleton are generalised. Dysostosis is a deformity or maldevelopment of a single bone or body segment. OR a term used when there are underlying mesodermal or ectodermal abnormalities Dystrophy: alludes to deformities caused by metabolic or nutritional problems Dwarfism is pathological diminution of stature. Is broadly divided into proportionate (midget) or disproportionate (short limb or short trunk) varieties The short limb group can be further subdivided according to the site of maximal shortening: rhizomelic - in the proximal portion of the limb mesonelic - in the middle portion acromelic - in the distal portion Disproportionate Achondroplasia Metaphyseal chondrodysplasia Case Study Chondroectodermal dysplasia (Chondrodysplasia punctata) Short trunk Kneist syndrome Spondyloepiphyseal dysplasia Proportionate Mucopolysaccharidoses Diastrophic dysplasia Cliedocranial dysostosis PNEUMONIC for Common Dysplasias:

32. Wheeless' Textbook Of Orthopaedics inequality may be of sufficient severity to require surgery; The malignant potential of enchondromatosis Ollier's Disease. http://wheeless.orthoweb.be/o6/93.htm

Main Menu Home Page Multiple Enchodromatosis (Ollier's Disease) - Discussion: - originally was described by Ollier in late 1800's; - characterized by multiple enchondroma lesions primarily located w/ in the metaphyseal regions of tubular bones; - usually diagnosed in childhood; - pts w/ Ollier's dz have increased risk of a secondary chondrosarcoma developing later in life; - risk is about 25% by age 40 yrs; - Clinical Findings: - most pts have bilateral involvement, w/ predominance on one side; - enchondromas most frequently involve the short tubular bones of hands The malignant potential of enchondromatosis Ollier's Disease. An assessment of angular deformity, shortening, and pathological fracture in twenty-one patients.

33. Wheeless' Textbook Of Orthopaedics Energy Sources Chemistry of Skeletal Muscle Mucopolysaccharidoses Mucous Cyst MultipleCartilaginous Exostoses Multiple enchondromatosis Multiple Epiphyseal http://wheeless.orthoweb.be/orthoo/9281.htm

Main Menu Home Page Index: M Muscles Macrodactyly Madelung's Deformity MRI Discussion ... MP Joint Menu Muscle Index: Muscles Myopathic Disorders Muscle Fiber Types Tendons ... Myotonic Muscular Dystrophy

34. Ollier's Disease (Dyschondroplasia, [Multiple] Enchodromatosis, Osteochondromato of a supra and an infratentorial glioma in a patient with Ollier's disease moreevidence for non-mesodermal tumor predisposition in multiple enchondromatosis; http://www.bdid.com/ollier.htm

HOME Ollier's Disease (Dyschondroplasia, [Multiple] Hereditary Enchodromatosis, Osteochondromatosis) Simultaneous occurrence of a supra- and an infratentorial glioma in a patient with Ollier's disease: more evidence for non-mesodermal tumor predisposition in multiple enchondromatosis Atypical chondrodysplasia: a further variant of multiple enchondromatosis with vertebral involvement? Diffuse brain stem tumor in an adolescent with multiple enchondromatosis (Ollier's disease) Multiple Hereditary Exostoses ... Enchondroma (Includes X-Rays) Ollier's Disease Enchondromatosis HOME

35. Musculoskeletal Diseases Information OMIM; Disease map of Chromosome 8, and the LCGR locusJ Frezal - GENATLAS (FR). enchondromatosis Ollier/Maffucci Self http://www.mic.ki.se/Diseases/c5.html

search help staff Musculoskeletal Diseases Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Alphabetical List of Diseases Search PubMed at NCBI/NLM Textbook of Orthopaedics CR Wheeless Educational textbook syllabus Borrill et al. ] - Orthoteers (UK) The Belgian OrthoWeb - (BE) Site Map of the Orthopaedics and Sports Medicine resource at Univ of Washington, Seattle (US) The American Academy of Orthopaedic Surgeons A Musculoskeletal Atlas and a set of educational cases (radiol.) - U of Washington (US) OrthoLinx A collection of Case discussions at OrthoGate.org An orthopedic Encyclopedia - for patients - DynoMed.com Anatomy Links - KIB (SE) ChiroWeb .com [chiropractics] An Orthopedics hyperguide [userID + pswd required] - stryker/SLACK Inc. Orthopaedic Images from OrthoTrauma.Net Some PowerPoint presentation [note: IE Explorer only] from Dept of Orthopaedic Surgery, Edinburgh (UK) Radiographic Anatomy Modules , and about some Orthopaedic Hardware - Univ of Washington/School of Medicine/Radiology Orthopedic Institute of Southern California (US) Teaching Module on Anatomy using Joint Fluoroscopy - University of Iowa (US) Bone, Joint, and Necrotizing Soft Tissue Infections

36. Orthoguide.com EnchondromatosisEnchondroma Enchondroma 4-3114 To See Images Firs Search results for enchondromatosis . http//www.sbu.ac.uk/~dirt/museum/p43114.htmlSearch AltaVista for more on 'enchondromatosis'. http://www.orthoguide.com/ortho/Enchondromatosis.php3

Search results for "Enchondromatosis" Orthoguide Matches 1 - 1 of 1 Related Fields: Radiology: Enchondroma - images/description. [http://www.sbu.ac.uk/~dirt/museum/p4-3114.html] Search AltaVista for more on 'Enchondromatosis' Global Search Add Url Free Medline ... Search Enter Keywords to Search and Your Choice of Search Arguments Or And Match entire phrase Orthoguide.com

37. 1Up Health > Health Links Directory > Conditions And Diseases: Rare Disorders: O Virtual Children's Hospital A look at enchondromatosis by Michael P. D'Alessandro,MD Includes clinical presentation, etiology and imaging findings. http://www.1uphealth.com/links/rare-disorders-ollier-disease.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Rare Disorders : Ollier Disease See Related Categories Health: Conditions and Diseases: Musculoskeletal Disorders Sites NORD - Ollier Disease A look at the alternate names, a general discussion and resources. Ollier/Maffucci Self Help Group Information about the organization, and the diseases Ollier’s Disease and Maffucci Syndrome. Includes activities, services, membership, forums and chats. Virtual Children's Hospital A look at Enchondromatosis by Michael P. D'Alessandro, M.D. Includes clinical presentation, etiology and imaging findings. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.

38. Connective Tissue Oncology Society - Poster enchondromatosis CAUSED BY A MUTANT TYPE I PTH/PTHRP RECEPTOR Sevan Hopyan 1 , NalanGokgoz 1 , Raymond Poon 2 , Robert S. Bell 1 , William G. Cole 2 , Irene L http://www.ctos.org/meeting/2001/posters/poster75.html

Connective Tissue Oncology Society 2001 CTOS Annual Meeting Posters— Biology ENCHONDROMATOSIS CAUSED BY A MUTANT TYPE I PTH/PTHRP RECEPTOR Sevan Hopyan , Nalan Gokgoz , Raymond Poon , Robert S. Bell , William G. Cole , Irene L. Andrulis , Benjamin A. Alman , Jay S. Wunder Musculoskeletal Oncology Unit and Program in Molecular Biology and Cancer, Mount Sinai Hospital, Program in Developmental Biology, The Hospital for Sick Children OBJECTIVE: METHODS: RESULTS: We showed that key IHH-PTHrP pathway members are expressed in enchondromas and chondrosarcomas. The IHH and PTHrP signalling pathways were functional, but the feedback loop regulating IHH was dysregulated in these lesions. We identified a mutant PTHR1 in two patients with enchondromatosis. This mutant lowered baseline cAMP level and abolished IP3 accumulation in vitro. Expression of the mutant, but not WT, PTHR1 in the growth plates of transgenic mice resulted in the appearance of multiple enchondromas. These enchondromas were likely caused by abnormal proliferation and not abnormal resorption, since growth plate zonal architecture was altered, but the number of TRAP positive cells, which resorb the growth plate, were not.

39. SpringerLink: Pediatric Radiology - Abstract Volume 28 Issue 12 (1998) Pp 963-96 963966. reivew article Atypical chondrodysplasia a further variantof multiple enchondromatosis with vertebral involvement? SE http://link.springer-ny.com/link/service/journals/00247/bibs/8028012/80280963.ht

Pediatric Radiology ISSN: 0301-0449 (printed version) ISSN: 1432-1998 (electronic version) Table of Contents Abstract Volume 28 Issue 12 (1998) pp 963-966 reivew article : Atypical chondrodysplasia: a further variant of multiple enchondromatosis with vertebral involvement? S. E. Hegarty (1), Joanna J. Fairhurst (1), I. Karen Temple (2) (1) Department of Paediatric Radiology, Southampton University Hospitals NHS Trust, Tremona Road, Southampton SO16 1XT, UK (2) Department of Clinical Genetics, Southampton University Hospitals NHS Trust, Southampton, UK Received: 17 October 1997 Accepted: 17 April 1998 Abstract We report the case of a child with asymmetrical enchondromatosis and vertebral involvement, who presented in utero, and postulate its relationship to similar rarely reported cases. Article in PDF format (265 KB) Online publication: December 4, 1998 SpringerLink Helpdesk

40. SpringerLink: Skeletal Radiology - Abstract Volume 30 Issue 6 (2001) Pp 346-349 Abstract Volume 30 Issue 6 (2001) pp 346349. case report Symmetrical enchondromatosiswithout vertebral involvement and with cone-shaped phalangeal epiphyses. http://link.springer-ny.com/link/service/journals/00256/bibs/1030006/10300346.ht

Skeletal Radiology ISSN: 0364-2348 (printed version) ISSN: 1432-2161 (electronic version) Table of Contents Abstract Volume 30 Issue 6 (2001) pp 346-349 case report : Symmetrical enchondromatosis without vertebral involvement and with cone-shaped phalangeal epiphyses T. D. Mills, M. P. Hiorns, C. M. Hall The Hospital for Sick Children, Great Ormond Street, London WC1N 3JH, UK Received: 11 July 2000 Revision requested: 25 September 2000 Revision received: 30 January 2001 Accepted: 6 February 2001 Abstract A new type of enchondromatosis is described with a symmetrical distribution but not involving the spine and characterised by severe ankle deformity, shortening of metacarpals and phalanges, and cone-shaped phalangeal epiphyses. Keywords Article in PDF format (85 KB) Online publication: May 29, 2001 SpringerLink Helpdesk

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