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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In addition, the patient was also found to have left abducent nerve palsy, both right limbs with reduced power, bilateral brisk reflexes, and Babinski sign on the right side.
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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 condition in which multiple enchondromatosis is associated with soft tissue hemangiomas is known as Maffucci syndrome. Lifelong monitoring is required in olliers patients given the risk of malignant transformation [ 6 ].
Magnetic resonance imaging demonstrates lobulated lesions with intermediate signal intensity on T2- weighted images and predominantly high signal intensity on T2- weighted sequences. InBhargava et al further delineated some of the syndromes and distinguished non-hereditary and hereditary forms. This is an open-access enchondrmatosis distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Giant-cell tumor of bone. PTH1R mutations may contribute to the disease in a small subset encbondromatosis olliers patients but is probably not causative for the disease [ 1 ].
Multiple Enchondromatosis: Olliers Disease- A Case Report
Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. Distinctive enchondromatosis with spine abnormality, regressive lesions, short stature, and coxa vara: In patients with limb discrepancy distraction osteogenesis with the use of ilizarov instrument is indicated [ 2 ]. George Sunny1 V. Second edition,Oxford University Press. Histological examination of the skin specimen showed a hemangioendothelioma.
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If pain occurs when the child is older, this should raise the concern of malignant transformation or pathological fracture. Surgical intervention is necessary in case of pathological fractures, growth defect and malignant transformation [ 1 ]. Views Read Edit View history. Thank you for updating your details.
Multiple enchondromatosis (Ollier disease)
Looking For More References? Support Center Support Center. Edit History Tasneem Obeid: Multiple enchondromas, manifesting as central end eccentric osteolytic lesions and deformities in the metacarpals and phalanges of the fourth and fifth ray of the right hand. C ] – Ovarian juvenile granulosa cell tumor with precocious pseudopuberty.
For further discussion of appearances, please refer to the article on enchondromas. Radiology revealed several abnormalities. Enchondromas are originally localized to the growth plate cartilage, and progressively migrate towards the diaphysis.
Typically the tumors involve the short bones of the hands and feet. Lesions are usually distributed in the appendicular skeleton the skull and vertebral bodies are very rarely involved. However, a differential of hereditary exostosis needs to be ruled out.
However, 2 tumors with wildtype sequences from a subject with Maffucci syndrome had high levels of 2HG, and the third tumor with wildtype sequences, from a subject with multiple tumors subject 2had low levels of 2HG. Epidemiology in the Arab World View Map. The etiology of enchondromatosis has mlutiple associated with post-zygote state mutations during development. A new clinical entity. J Bone Joint Surg Am.