Radiology Case 438-3114 Similar pages More results from www.sbu.ac.uk Excite UK Directory 3. Virtual Children's Hospital, A look at enchondromatosis by Michael P. D'Alessandro,MD Includes clinical presentation, etiology and imaging findings. http://www.sbu.ac.uk/~dirt/museum/438-3114.html
MAFFUCCIS SYNDROME: REPORT OF A CASE enchondromatosis is a nonhereditary skeletal disorder, characterized by the persistenceof cartilage in several bones that are formed by enchondral ossification http://www.kfshrc.edu.sa/annals/203_204/99-306R.htm
Extractions: Enchondromatosis is a nonhereditary skeletal disorder, characterized by the persistence of cartilage in several bones that are formed by enchondral ossification. In 1900, Ollier described a condition that resembled the osseous component of the syndrome that Maffucci had described 19 years earlier. In Maffuccis syndrome (MS), the enchondromas coexist with cutaneous and sometimes visceral hemangiomas. Fewer than 200 cases of Maffuccis syndrome have been published in the English literature. Malignant transformation of the skeletal lesions is a common feature of MS, and has been observed in approximately 30% of reported cases, with chondro-sarcomas being the most common. The development of various types of neoplasms is a well-known complication of MS, and is recognized as a principal factor affecting prognosis. In 1948, Kuzma and King first reported an ovarian mesenchymal tumor associated with MS, and since then, sporadic reports have referred to ovarian tumors of sex-cord stromal derivation in patients with enchondromatosis. We describe the first case of bilateral ovarian serous cystadenomas and polycystic ovarian disease in a patient with MS, and review previously reported gynecologic pathology seen in association with enchondromatosis.
Untitled Multiple enchondromatosis. left hand. right hand. CC Left hand swelling.AGE/SEX 4/M. Radiologic finding Multiple well defined osteolytic http://www.kumc.or.kr/radiology/teaching/multipleenchondoro.html
Extractions: 1. ABDOMEN IMAGING Pancreatic pseudocyst and pseudoaneurysm Pheochromocytoma Angiomyolipoma in kidney Krukenberg tumor ... Teratoma of ovary 2. NEURO IMAGING Neurocyticercosis Brain abscess Chiari II malformatio n 3. CHEST IMAGING Rupture of aortic aneurysm Thymoma 4. PEDIATRIC IMAGING Jejunal atresia with microcolon 5. MUSCULOSKELETAL IMAGING Multiple enchondromatosis Intraosseous ganglion cyst
II. Congenital And Hereditary Bone Disorders enchondromatosis is a rare disorder of skeletal development characterized by thepresence of multiple circumscribed foci or masses of cartilage in the interior http://edcenter.med.cornell.edu/CUMC_PathNotes/Skeletal/Bone_02.html
Extractions: by Robert C. Mellors, M.D., Ph.D. 1. Achondroplasia General Considerations A chondroplasia is a congenital and often hereditary (autosomal dominant) skeletal disorder characterized by a unique form of dwarfism and bone deformity resulting in a disproportinate shortness of the extremities relative to the trunk. : Achondroplasia: note the disproportionate shortness of the extremities to the trunk in this form of dwarfism. Achondroplasia is caused by a failure of proliferation and column formation of epiphysial cartilage cells, that is, by a defect in endochondral bone formation which impairs the longitudinal growth of the tubular bones. Point mutations in the FGR3 gene (encoding fibroblast growth receptors) on human chromosome 4 p segregate with disease in achondroplasia families (Rousseau, F., et al. Nature 371:252-254, 1994). Pathology A chondroplasia shows various degrees of expression. The severest cases result in fetal or neonatal death, and milder cases survive and comprise the commonest type of adult dwarfism. The adult height in achondroplasia is usually less than four feet. The extremities (legs, arms, fingers, toes) are very short (micromelia) relative to the trunk which is only slightly shortened. Intramembraneous ossification is not affected. The head (cranial vault) is large. The root of the nose is depressed. The skeletal deformities just noted along with normal intelligence and sexual development distinguish achondroplasia from dwarfism resulting from endocrine and nutritional deficiencies and other causes.
VII. Bone Tumors H E. The histopathological appearance of solitary enchondroma is similar to thatof enchondromatosis, a developmental disorder of cartilage of bone (refer to http://edcenter.med.cornell.edu/CUMC_PathNotes/Skeletal/Bone_07.html
Extractions: Tumor-like Lesions of Bone Focal Lesion Diffuse Lesion Central (Medullary) Eccentric (Cortical/Juxtacortical) Tumorlike Lesions Solitary bone cyst* (metaphysis) Nonossifying fibroma* (metaphysis) Osteoporosis Fibrous dysplasia* (shaft) Aneurysmal bone cyst* (metaphysis) Osteomalacia Eosinophilic granuloma* (shaft) Exuberant fracture callus Hyperparathyroidism Hyperparathyroidism ("brown tumors") Myositis ossificans (juxtacortical) Paget's disease of bone Gaucher's disease Benign Neoplasms Enchondroma (metaphysis) Osteochondroma (metaphysis) Giant cell tumor (also malignant) (metaphysis/epiphysis) Chondroblastoma* (epiphysis) Malignant Neoplasms Central chondrosarcoma (diaphysis) Osteogenic sarcoma* (metaphysis) Osteogenic sarcoma* (osteolytic) Medullary fibrosarcoma Peripheral chondrosarcoma Multiple myeloma (diaphysis) Metastatic carcinoma Ewing's sarcoma* (diaphysis) Metastatic carcinoma * Predilection for children and teenagers T here are, of course, many other features to be considered in the radiological analysis of a bone lesion, among them: the presence or absence of mineralization of the tumor matrix; whether the lesion causes bone destruction (osteolytic lesion) or bone production (osteosclerotic lesion) or has a multiloculated "soap bubble" appearance (Table); presence of reactive periosteal new bone formation; destruction of cortex and extracortical tumor extension.
Health Library - Ollier Disease Synonyms. Multiple enchondromatosis; Multiple Cartilaginous Enchondroses; Dyschondroplasia;enchondromatosis. Disorder Subdivisions. None. General Discussion. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=
Extractions: A disorder of the growing ends of bones in which round nonossified cartilaginous masses scattered throughout the skeleton produce asymmetrical and very variable deformities, asymmetric leg shortening being common. The lesions are first noted from 1 to 4 years of age, rarely at birth, with little progression after adolescence. Both sexes may be affected. The majority of cases have been sporadic but a familial tendency has been reported in a few instances. Enchondromatosis is usually bilateral. The term Ollier syndrome applies in cases with unilateral involvement. The combination of multiple enchondromata with haemangiomata and phleboliths is known as Maffucci syndrome.
MSN Health - subdivision(s) covered by this report. Synonyms Dyschondrodysplasia withHemangiomas; enchondromatosis with Multiple Cavernous Hemangiomas; http://content.health.msn.com/NR/internal.asp?GUID={1FD85E99-F9C7-4BE6-A2D6-A8C9
Web Hosting, Domain Name, Free Web Site, Email Address Web 5. enchondromatosis (Ollier's Disease) rare disorder of skeletal developmentcharacterized by the presence of multiple circumscribed foci or masses of http://www.fortunecity.com/skyscraper/market/366/bone/id18_m.htm
BONE PATHOLOGY Fragilitas Ossium) Osteopetrosis (Marble Bone Disease, Osteosclerosis) HereditaryMultiple Exotosis (Osteochondromatosis) enchondromatosis (Ollier's Disease http://www.fortunecity.com/skyscraper/market/366/bone/id18.htm
Ollier Disease Website Results :: Linkspider UK Virtual Children's Hospital A look at enchondromatosis by Michael P. D'Alessandro,MD Includes clinical presentation, etiology and imaging findings. http://www.linkspider.co.uk/Health/ConditionsandDiseases/RareDisorders/OllierDis
Extractions: See Also: Health: Conditions and Diseases: Musculoskeletal Disorders Ollier/Maffucci Self Help Group - Information about the organization, and the diseases Olliers Disease and Maffucci Syndrome. Includes activities, services, membership, forums and chats. NORD - Ollier Disease - A look at the alternate names, a general discussion and resources. Virtual Children's Hospital - A look at Enchondromatosis by Michael P. D'Alessandro, M.D. Includes clinical presentation, etiology and imaging findings.
Hand Case Of The Week #10-99 Aug 8 1999 Discussion The patient has Maffucci's syndrome, also referred to as multiplecongenital enchondromatosis or hemangiomatosis osteolytica. http://www.eatonhand.com/handbase/cwf101999.htm
Extractions: The Case History The patient is a 23 year old woman whose right upper extremity is affected by a ...syndrome. She has restricted finger motion. Lately the 4th (ring) digit tip is very painful. The tip of the 4th finger is prominent, red, very sensitive to touch, hypotrophic nail, consistency very soft. What to do? Radiographs And again, the ring fingertip: You might like to run a search. Click on the links below to search for: Discussion The patient has Maffucci's syndrome, also referred to as multiple congenital enchondromatosis or hemangiomatosis osteolytica. Maffucci's syndrome is a congenital nonfamilial syndrome combining neuro-ectodermal dyschondroplasia, (enchondromatosis) and multiple soft tissue hemangiomas (hemangiomatosis). It is a rare disease; only 200 cases have been reported throughout the world in the past 140 years. These tumors typically present in early childhood with pain and heaviness of the involved extremity and may lead to significant skeletal deformities. It is associated with chondrosarcoma and vascular origin sacomas, intracranial tumors, and with vascular nasopharyngeal and airway tumors which may lead to intubation related bleeding. Malignant transformations are a common feature of this syndrome and have been reported in approximately 30% of reported cases, with chondrosarcomas being the most common.
Hand Surgery Information - Glossary Search EMBRYONAL EMERGENCIES EMERGENCY EMG EMINENCE EMPLOYMENT ENCAPSULATED ENCAPSULATIONENCHONDROMA ENCHONDROMAS ENCHONDROMATA enchondromatosis ENDARTERECTOMY ENDER http://www.eatonhand.com/glo/E.htm
WebMD - nord Encephalomyelitis, Myalgic nord Encephalopathy, Hypoglycemic nord EncephalotrigeminalAngiomatosis nord enchondromatosis nord enchondromatosis http://my.webmd.com/content/healthwise/118/29495.htm
Osteochondrodysplasias Coll. of Wisconsin. enchondromatosis Search PUBMED for enchondromatosis All ReviewTherapy Diagnosis; Enchondroma, tibia U. of Washington; Enchondroma Med. http://www.ohsu.edu/cliniweb/C5/C5.116.99.708.html
Alphabetical Topic Index (AZ) Jump To A B C D E F G H I J K L M Mitochondrial Encephalomyopathies Encephalopathy, Bovine Spongiform Encephalopathy,Bovine Spongiform enchondromatosis enchondromatosis Encopresis Encopresis http://www.uscuh.com/apps/Intermap/topiclist/SectionE.html
NORD - National Organization For Rare Disorders, Inc. Copyright 1987, 1989, 1995, 1998, 2001 Synonyms of Ollier Disease enchondromatosis;Multiple Cartilaginous Enchondroses; Multiple enchondromatosis. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Ollier Diseas
Ollier Disease And Maffucci Syndrome Characteristics of Ollier disease include multiple enchondromatosis, usuallyunilateral benign cartilage tumors of bone. Maffucci Syndrome. http://ortho.hyperguides.com/Tutorials/tumor/ollier/tutorial.asp
Extractions: To make the diagnosis of Ollier disease, the bone should be dysplastic. The dysplatic bone is often shortened and bowed. Patients may have multiple enchondromas with normal-appearing bones and, hence, they do not have Ollier disease. Ollier disease is a rare syndrome. Historically, we are taught that approximately 30% of patients with Ollier disease will develop a chondrosarcoma. These are usually very low-grade lesions. If the patient has associated soft tissue angiomas, then the patient has Maffucci syndrome. The risk of chondrosarcoma in Maffucci syndrome may be as high as 100%. Again, these are low-grade chondrosarcomas. The patient is more typically to die from a high-grade visceral carcinoma, such as an astrocytoma, pancreatic tumor, liver tumor, or breast cancer.
Bone And Cartilage Tumors Of The Hand And Wrist Olliers disease (multiple enchondromatosis) is associated with deformitiesof the axial skeleton and larger, unilateral lesions. http://ortho.hyperguides.com/Tutorials/hand/bonecartilage_tumors/tutorial.asp
Extractions: Cartilaginous tumors are the second most common class of primary bone tumor, and the most common primary bone tumor of the upper extremity. Histologically, cartilaginous tumors contain some form of hyaline cartilage. Most lesions are found in otherwise healthy young adults. Presenting features include pain, swelling, or limited range of motion due to pathological fracture through the lesion. Osteochondroma Osteochondroma is the most common of all cartilaginous tumors and is the most common benign bone tumor. Frequently found in the ulna or radius, osteochondroma is formed from distorted cartilaginous areas that form subungal or metaphyseal bony mass by endochondral ossification. The hand is always involved in multiple hereditary exostoses, although it is rarely a site of involvement of solitary lesions. Multiple osteochondromas represent an autosomal dominant hereditary disorder and are associated with bone deformities. Osteochondromas do not occur in bones with membranous ossification. Osteochondroma is usually asymptomatic but may cause pain, angular deformity, mechanical block of joint motion, and inhibition of longitudinal growth. It appears in the first or second decade of life
