Download Citation on ResearchGate | Encondromatosis múltiple, enfermedad de Ollier | Multiple enchondromatosis (Ollier’s disease) is a rare disease. PDF | Ollier disease (Spranger type I) is a rare bone disease that is characterized by multiple Encondromatosis múltiple, enfermedad de Ollier. Article. Enchondromatosis, also known as Ollier disease (see Terminology section), is a non-hereditary, sporadic, skeletal disorder characterised by multiple.
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Halal and Azouz reported the case of a boy who had platyspondyly and metaphyseal manifestations of enchondromatosis with severe involvement of the hands and feet compatible with generalized enchondromatosis, or Spranger type VI enchondromatosis.
Multiple Enchondromatosis: Olliers Disease- A Case Report
Case 5 Case 5. A diagnosis of multiple enchondromatosis olliers disease was made based on the morphology and location of bone lesions on plain radiographs. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact. Vaz and Turner described a case of Ollier disease associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty.
Clinical Synopsis Toggle Dropdown. If growth occurs then, this raises the possibility of malignant transformation 4. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.
Looking For More References? Oloier Spanish Association of Pediatrics has as encondromatoais of its main objectives the dissemination of rigorous and updated scientific information on the different areas of pediatrics.
Enchondromas are common benign cartilage tumors of bone. CiteScore measures average citations received per document published. Signs of malignancy should be looked for which include econdromatosis erosion, extension of the tumour into soft tissues, and irregularity or indistinctness of the surface of the tumour. Expert curators review the literature and organize it to facilitate your work. Mutations were absent in DNA isolated from the blood, muscle, or saliva of the subjects.
J Bone Joint Surg Am. Halal and Azouz added 3 tentative categories to the 6 in the classification of Spranger et al. The differential diagnosis for bone tumours is dependent on the age of the patient, with a very different set of differentials for the pediatric patient.
Ollier disease – Wikipedia
Both the father and the son had consanguineous parents. The characteristic x-ray finding include multiple, radiolucent, homogenous oval or elongated lesions with a well defined slightly thickened bony margin [ 3 ]. They can occur as solitary lesions or as multiple lesions in enchondromatosis.
Most cases of Ollier disease have been sporadic Halal and Azouz, encondroatosis Dyschondroplasia Ollier disease Prevalence: The authors thus suggested that the mutations occurred during development, resulting in genetic mosaicism in these individuals.
The receptor constitutively activated hedgehog signaling, and excessive hedgehog signaling was sufficient to cause formation of the enchondroma-like lesions. The mutation RC was heterozygous and was found in enchondroma specimens from 2 of 6 individuals with Ollier enchondromatosis. Prevalence is estimated at around 1 inIf involvement of the lower limbs is significant, leg length discrepancy may occur.
SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. Eight tumor samples had subthreshold peaks at the position in IDH1 expected to encode mutations resulting in RC or RH substitutions and mutations were confirmed in 7 of these tumors by the hydrolysis probe assay. Since there is a risk for malignant transformation in these tumours a careful lifelong followup is necessary. Encondromaatosis this box if you wish to receive a copy of your message.
Once the individual stops growing then in general, so do the enchondromas. To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior.
If only a few bones are involved, then little enconxromatosis any handicap is present, although the affected bones do have a higher enconrromatosis of fracture.
Maffucci syndrome carries a higher risk for cancer. Olliers disease is encondromatoais by the presence of at least three enchondromas [ 1 ]. C ] – Ovarian juvenile granulosa cell tumor with precocious pseudopuberty Radiology – Enchondromata Inheritance -?
Persons with Ollier disease are prone to breaking bones and normally have swollen, aching limbs. Of these 19, 15 were found to have the same mutation in each of their tumor samples that were examined.
Abstract Olliers disease is a rare disease characterized by widespread enchondromas with a unilateral predominance, in early childhood. The Olller Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years.
Find articles by V. For all other comments, please send your remarks via contact us. X- ray pelvis with both hips AP view- multiple expansile lytic lesions in the metaphysis of right femur, both iliac bones and both pubic bones. Olliers disease is a rare disease characterized by widespread enchondromas with a unilateral predominance, in early childhood.
Clinical presentation is usually with deformity and pain present only during periods of rapid growth 3,4.
An informed consent was taken and plain x-rays of legs, feet, hands, forearms, hip with pelvis, and thoracolumbar spine were obtained.