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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Case 2 Case 2.
Zur Erblichkeit der Knochenchondromatose.
Review of the literature with an emphasis on the clinical behaviour, radiology, malignant transformation and the follow up. J Bone Joint Surg Am.
When hemangiomata are associated, the condition is known as Maffucci syndrome Find articles by George Sunny. Discussion Olliers disease is characterized by the presence of at least three enchondromas [ 1 ]. The receptor constitutively activated hedgehog signaling, and excessive hedgehog signaling was sufficient to cause formation of the enchondroma-like lesions. Persons with Ollier disease are prone to breaking bones and normally have swollen, aching limbs.
As such, some authors prefer to use the term Ollier disease in cases where this distribution is present and use enchondromatosis or multiple enchondromatosis for cases where the distribution is more symmetric 5.
However routine use of magnetic resonance imaging is not recommended because plain radiographs provide adequate information [ 2 ].
Ollier disease enchondromatosis associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty. There are a few instances of familial occurrence. Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. Chiang Mai Med J.
The non-hereditary asymmetrical polyostotic distribution of the lesions might suggest a somatic mosaic mutation. Case 8 Case 8. PTH1R mutations may contribute to the disease in a small subset of olliers patients but is probably not causative for the disease [ 1 ].
However, a differential of hereditary exostosis needs to be ruled out. In the original description of Ollier disease, the enchondromas were predominantly confined to one side and limited to the limbs. Dyschondroplasia Ollier disease Prevalence: We need long-term secure funding to provide you the information that you need at your fingertips.
Ollier disease – Wikipedia
Prevalence is estimated at around 1 inOne person in everyis affected. 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. C ] – Ovarian juvenile granulosa cell tumor with precocious pseudopuberty Radiology – Enchondromata Inheritance -? One tumor in subject 21 harbored a mutation causing an RS substitution, whereas the second tumor had wildtype sequences.
Continuing navigation will be considered as acceptance of this use. X-ray showing enchondromas localized in the lower part of the radius of a year-old patient affected with Ollier disease.
Malignant transformation is a major complication of enchondromatosis. Articles from Journal of Clinical and Diagnostic Research: The malignant potential of enchondromatosis.
Case 5 Case 5. Once the individual stops growing then in general, so do the enchondromas.