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
Multiple Enchondromatosis: Olliers Disease International Pediatrics. Volume 17, Number 4. Clinical Article. Multiple enchondromatosisOlliers 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
Extractions: International Pediatrics Volume 17, Number 4 Clinical Article Multiple Enchondromatosis: Olliers 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
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
Extractions: 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.
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
Extractions: 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). : 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).
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
Extractions: Main Menu Home Page - 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
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
Extractions: Main Menu Home Page 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
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
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
Extractions: 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
Extractions: 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 Dysostosis Dystrophy: Dwarfism Disproportionate Proportionate PNEUMONIC for Common Dysplasias:
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
Extractions: Main Menu Home Page - 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.
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
Extractions: 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.
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
Extractions: 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.
Extractions: 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
Extractions: 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
