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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Annals of Pediatrics is the Body of Scientific Expression of the Association and is the vehicle through which members communicate. 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.

Despite the recent advances in the molecular diagnosis of congenital abnormalities the final decision for genetic evaluation still relies on clinical and radiological criteria [ 5 ].

O,lier condition is non-hereditary and is thought to occur as a result of random and spontaneous mutations.

Check this box if you wish to receive a copy of your message. Compared to chondrosarcomas which show poor demarcation, enchondromas tend to be well circumscribed.

Orphanet: Encondromatosis

Case 3 Case 3. Orphanet Journal of Rare Diseases. Case Report A year-old female patient presented to our hospital with difficulty in walking, leg pain and multiple swellings in hands and leg encondromatosi 2 years. 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.


Multiple Enchondromatosis: Olliers Disease- A Case Report

One tumor in subject 21 harbored a mutation causing an RS substitution, whereas the second tumor had wildtype sequences. A large proportion The material is in no way intended to ollidr professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

In the original description of Ollier disease, the enchondromas were predominantly confined to one side and limited to the limbs. However routine use of magnetic resonance imaging is not recommended because plain radiographs provide adequate information [ 2 ]. Insights into Enchondroma, Enchondromatosis and the risk of secondary Chondrosarcoma. Support Radiopaedia and see fewer ads. A new clinical entity. Both the father and the son had consanguineous parents.

In their classification of the enchondromatoses, Spranger et al. Most cases of Ollier disease have been sporadic Halal and Azouz, Enchondromas localized in the upper part of the humerus of the same patient. You can help by adding to it. Malignant transformation is a major complication of enchondromatosis.

When hemangiomata are associated, the condition is known as Maffucci syndrome Nominally, the disease consists of multiple enchondromas which encondromatoxis develop in childhood. The pathogenesis of olliers disease is unknown [ 2 ]. Chiang Mai Med J. Case 6 Case 6. Only comments written in English can be processed. 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 ].

Clinical presentation is usually with deformity and pain present only during periods of rapid growth 3,4. Halal and Azouz added 3 tentative categories to the 6 in the classification of Eencondromatosis et al. Looking For More References? Find articles by V. Additional information Further information on this disease Classification s 4 Gene s 3 Clinical signs and symptoms Publications in PubMed Other website s 9.



Lifelong monitoring is required in olliers patients given the risk of malignant transformation [ 6 ]. Two peculiar types of enchondromatosis. Case 4 Case 4.

Expert curators review the literature and organize it to facilitate your work. Radiographs show multiple enchondromas. The characteristic x-ray finding include multiple, radiolucent, homogenous oval or elongated lesions with a well defined slightly thickened bony margin [ 3 ].

Case 1 Case 1. The lesions are usually asymmetrical, that are localized unilateral, if bilateral, and there will be one dominant side [ 2 ]. Plain radiographs are sufficient for diagnosis. Halal and Azouz suggested that platyspondyly may be 1 a manifestation of the carrier state for an autosomal recessive trait; 2 a minor expression of the same autosomal recessive trait in an affected individual since the father’s parents were also consanguineous and some of his sibs were reported to have prominent joints; or 3 less likely, variable expression of an autosomal dominant trait in the father and son.

Is it all in the genes? Olliers disease is characterized by the presence of at least three enchondromas [ 1 ].

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