ORPHANET® : Enchondromatosis ORPHANET. Orphanet database access. enchondromatosis. Direct access to data Summary Maffucci s syndrome is characterized by the presence http://www.orpha.net/static/GB/enchondromatosis.html
Extractions: Maffucci's syndrome is characterized by the presence of multiple enchondromas and cutaneous hemangiomas. Intracranial chondrosarcomas may be associated with this syndrome. Immunohistochemical studies are necessary to differentiate chondrosarcomas from chordomas. Its etiology is still unclear. Maffucci's syndrome is a dysembryoplasia of the mesoderm, explaining the dual involvement of cartilage and vascular tissue. The risk of malignant degeneration or associated tumors is probably high in this uncommon disease, suggesting that there is an additional oncogenic factor. * Author: S. Aymé, M.D. (June 1999) * Clinical signs Update : 01/06/2004 Orphanet database access
Ollier Disease Malignant progression in multiple enchondromatosis (Olliers disease) an autopsybased molecular genetic study. Hum Pathol. 2000;311299-303. http://www.bchealthguide.org/kbase/nord/nord337.htm
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Ollier disease is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood when symptoms, such as deformities or improper limb growth, are more obvious. Ollier disease primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet (metaphyses). The pelvis is often involved; and even more rarely, the ribs, breast bone (sternum), and/or skull may also be affected. Ollier disease manifests as greater than normal growth of the cartilage in the long bones of the legs and arms so that growth is abnormal and the outer layer (cortical bone) of the bone becomes thin and more fragile. These masses of cartilage are benign (non-cancerous) tumors known as enchondromas. Enchondromas may occur at anytime. After puberty these growths stabilize as cartilage is replaced by bone. In rare cases, the enchondromas may undergo malignant changes (e.g., chondrosarcomas). The exact cause of Ollier disease is not known, although in some cases it may be inherited as an autosomal dominant genetic trait.
Maffucci Syndrome enchondromatosis WITH HEMANGIOMAS (MAFFUCCI S SYNDROME) E. Gutman, et al.; South Med J (April 1978, issue 71(4)). Pp. 466467. http://www.bchealthguide.org/kbase/nord/nord433.htm
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Maffucci Syndrome is a rare genetic disorder characterized by benign overgrowths of cartilage (enchondromas), skeletal deformities, and dark red irregularly shaped patches of skin (hemangiomas). Enchondromas are most often found in certain bones (phalanges) of the hands and feet. Skeletal malformations may include legs that are disproportionate in length and/or abnormal side-to-side curvature of the spine (scoliosis). In many cases, bones may tend to fracture easily. In most cases, hemangiomas appear at birth or during early childhood and may be progressive. Maffucci Syndrome is inherited as an autosomal dominant genetic trait.
OLLIER ENCHONDROMATOSIS Features Listed For OLLIER enchondromatosis. McKusick 166000. Enchondromata; Lytic lesions of bone; Macrodactyly; Multiple fractures; Ovarian cysts/tumours; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1255
ENCHONDROMATOSIS, GENERALISED Features Listed For enchondromatosis, GENERALISED. McKusick 166000. Chromosome(s) http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?540
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 text and images courtesy of Henry DeGroot III, M.D. found on www.bonetumor.org 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:
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Ollier disease is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood when symptoms, such as deformities or improper limb growth, are more obvious. Ollier disease primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet (metaphyses). The pelvis is often involved; and even more rarely, the ribs, breast bone (sternum), and/or skull may also be affected. Ollier disease manifests as greater than normal growth of the cartilage in the long bones of the legs and arms so that growth is abnormal and the outer layer (cortical bone) of the bone becomes thin and more fragile. These masses of cartilage are benign (non-cancerous) tumors known as enchondromas. Enchondromas may occur at anytime. After puberty these growths stabilize as cartilage is replaced by bone. In rare cases, the enchondromas may undergo malignant changes (e.g., chondrosarcomas). The exact cause of Ollier disease is not known, although in some cases it may be inherited as an autosomal dominant genetic trait.
Maffucci Syndrome - Quest Diagnostics Patient Health Library subdivision(s) covered by this report. Synonyms. Dyschondrodysplasia with Hemangiomas; enchondromatosis with Multiple Cavernous Hemangiomas; http://www.questdiagnostics.com/kbase/nord/nord433.htm
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Maffucci Syndrome is a rare genetic disorder characterized by benign overgrowths of cartilage (enchondromas), skeletal deformities, and dark red irregularly shaped patches of skin (hemangiomas). Enchondromas are most often found in certain bones (phalanges) of the hands and feet. Skeletal malformations may include legs that are disproportionate in length and/or abnormal side-to-side curvature of the spine (scoliosis). In many cases, bones may tend to fracture easily. In most cases, hemangiomas appear at birth or during early childhood and may be progressive. Maffucci Syndrome is inherited as an autosomal dominant genetic trait. Ollier/Maffucci Self-Help Group
Extractions: Maffucci Syndrome,Dyschondrodysplasia with Hemangiomas,Enchondromatosis with Multiple Cavernous Hemangiomas,Hemangiomatosis Chondrodystrophica,Kast Syndrome,Multiple Angiomas and Endochondromas,Maffucci Syndrome,Dyschondrodysplasia with Hemangiomas,Enchondromatosis with Multiple Cavernous Hemangiomas,Hemangiomatosis Chondrodystrophica,Kast Syndrome,Multiple Angiomas and Endochondromas National Organization for Rare Disorders Maffucci Syndrome is a rare genetic disorder characterized by benign overgrowths of cartilage (enchondromas), skeletal deformities, and dark red irregularly shaped patches of skin (hemangiomas). Enchondromas are most often found in certain bones (phalanges) of the hands and feet.
Wheeless' Textbook Of Orthopaedics lesions or metaphyseal lesions which do not cross the growth plate, at least, not until growth plate closure; in some cases enchondromatosis will affect http://www.wheelessonline.com/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
Entrez PubMed Generalized enchondromatosis in a boy with only platyspondyly in the father. Halal F, Azouz EM. Division of Medical Genetics, Montreal http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?holding=npg&cmd=Retrieve&db=PubMed
Entrez PubMed Click here to read A mutant PTH/PTHrP type I receptor in enchondromatosis. Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?holding=npg&cmd=Retrieve&db=PubMed
Nature Publishing Group 3 pp 306 310 A mutant PTH/PTHrP type I receptor in enchondromatosis Schwartz, HS et al. The malignant potential of enchondromatosis. J. Bone Joint Surg. Am. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v30/n3/full/ng844.ht
