Enchondromatosis is a rare heterogeneous skeletal disease characterized by multiple enchondromas, and it includes several different subtypes of which Ollier . Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. Enchondromatosis, also known as Ollier disease (see Terminology section), is a non-hereditary, sporadic, skeletal disorder characterised by multiple.
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Multiple enchondromatosis, Ollier type | International Osteoporosis Foundation
Please consider making a donation now and again in the future. Enchondromatosis constitutes a group of disorders, characterized by multiple benign cartilaginous tumors, located primarily in the metaphyseal regions of the tubular bones. The osteochondromas seen in hereditary multiple exostosis are located at the bone surface whereas enchondromas enchondromatois located in the centre of bones [ 3 ].
Zur Erblichkeit der Knochenchondromatose. The pathogenesis of enchondromatosis is not clearly understood. Contribute To contribute with your findings to the content of this record, please fill multpile CTGA Database Information Submission Form and email it, along with supportive documents, to cags emirates.
Discussion Olliers disease is characterized by the presence of at enchindromatosis three enchondromas [ 1 ]. J Bone Joint Surg Am. Otro caso de discondrosteosis generalizada congenita, tipo Ollier.
Prevention Diagnosis Living with Osteoporosis. Ollier disease is the best known form of this condition, in which the enchondromas have a predominantly unilateral distribution. Support Center Support Center. To contribute with your findings to the multuple of this record, please fill the CTGA Database Information Submission Form and email it, along with supportive documents, to cags emirates.
There is no marker that would indicate progression towards malignancy, thus there is a vital need to understand the genetics of these tumours which may help to develop markers for early diagnosis [ 4 ]. The patients become symptomatic usually in the first decade of life.
Most cases of Ollier disease have been sporadic Halal and Azouz, More interestingly, it has been reported that the PTHrP parathyroid hormone-related protein receptor has been implicated as a gene responsible for cases of enchondromatosis in patients with a family history of mild skeletal dysplasia in their male parents.
Enchodromatosis osteochondromatosis Hereditary multiple exostoses. Olliers disease is characterized by the presence of at least three enchondromas [ 1 ]. You can also scroll through stacks with your mouse wheel or the keyboard arrow keys.
Overlying skin was normal. Cortical erosion, pathological fracture and extension of the tumor into soft tissues can be considered as a sign of malignancy.
From Wikipedia, the free encyclopedia. In Spranger et al summarized six different classes of enchondromatosis based on radiographic features.
However, the recurrence rate tends to be high after cutterage. Calcium content of common foods What is Osteoporosis? European Journal of Radiology. Enchondromas are benign cartilaginous tumors that develop in the metaphysis and may become in-corporated into the diaphysis in close proximity to the growth plate cartilage. Histological analysis has a limited role and is mainly used if malignancy is suspected.
Synonyms or Alternate Spellings: Raine syndrome Osteopoikilosis Osteopetrosis. PTHR1 protein expression was studied using immunohistochemistry, revealing normal expression. Epidemiology in the Arab World View Map. If involvement of the lower limbs is significant, leg length discrepancy may occur.
Physical examination showed a marked shortening of both upper and lower limbs and cutaneous hemangioma in the legs. Osseous and chondromatous neoplasia Neoplasm stubs. George Sunny1 V. In a case of human enchondromatosis, Hopyan et al. This case report discusses the case of a year-old female who presented with difficulty in walking, leg pain and multiple painless swellings in hands and legs for a period of 2 years.
Bibliography Pathological fractures, a consideration with metachondromatosis and differential diagnoses: Halal and Azouz added 3 tentative categories to the 6 in the classification of Spranger et al. Retrieved from ” https: Treatment Treatment depends on the type of enchondromatosis; it may include surgery, amputation, bone grafting and sclerotherapy.
Metaphyseal dysplasia Jansen’s metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia. If only a few bones are involved, then little if any handicap is present, although the affected bones do have a higher rate of fracture. The difficulties of stating the frequency of malignancy in von Recklinghausen neurofibromatosis and multiple exostoses from hospital records or reports is well known McKusick, The lesions are multiple and asymmetrically distributed, predominantly affecting one side of the body.
Signs of malignancy should be looked for which include cortical erosion, extension of the tumour into soft tissues, and irregularity or indistinctness of the surface of the tumour.
Surgical intervention is necessary in enchonddromatosis of pathological fractures, growth defect and malignant transformation [ 1 ]. Case 8 Case 8. Lifelong monitoring is required in olliers patients given the risk of malignant transformation [ 6 ].
In enchondromatoosis with limb discrepancy distraction osteogenesis with the use of ilizarov instrument is indicated [ 2 enhcondromatosis.