ENCHONDROMATOSIS MULTIPLE PDF

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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J Bone Joint Surg Am. In a case of human enchondromatosis, Hopyan et al. Orphanet Journal of Rare Diseases.

While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. The condition is non-hereditary and is thought to occur as a result of random and spontaneous mutations. Since there is a risk for malignant transformation in these tumours a careful lifelong followup is necessary.

The patients become symptomatic usually in the first decade of life. There is no medical treatment for olliers disease.

This has resulted in deformity of the fourth finger. The general physical examination mutiple unremarkable except for swelling of the fingers. The extent of disease is highly variable and thus so is the degree of impairment.

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Enchondromatosis | Radiology Reference Article |

Edit History Tasneem Obeid: They can occur anywhere but most frequently involve the short tubular bones of the hands and feet. Dominant inheritance with reduced penetrance is possible.

Related Radiopaedia articles Bone tumours The differential diagnosis for bone tumours is dependent on the age of the patient, with a very different set of differentials for the enchondromatois patient. Sometimes in case of severe condition, flat bones are also affected.

Published online Jan 1. Articles from Journal of Clinical and Diagnostic Research: The patient presented with various deformations and shortening of the limbs since the age of three years.

Multiple Enchondromatosis: Olliers Disease- A Case Report

Tamimi and Bolen had described the same association. Slagsvold and Larsen Most cases of Ollier disease have been sporadic Halal and Azouz, Please consider making a donation now and again in the future.

Find articles by George Sunny. Similar lesions are seen in the greater trochanter of the right femur. Gene PTHR1 gene, 3p Lesions are usually distributed in the appendicular skeleton the skull and vertebral bodies are very rarely involved. No other tests were performed apart from x-rays as it was not affordable for the patient and she did not visit us for further follow up or treatment even though advised.

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Treatment depends on the type of enchondromatosis; it may include surgery, amputation, bone grafting and sclerotherapy. Treatment Treatment depends on the type of enchondromatosis; it may include surgery, amputation, bone grafting and sclerotherapy. Typically the tumors involve the short bones of the hands and feet.

Anteroposterior and lateral radiographs showing multiple columnar cartilaginous masses of the right lower end of the femur and upper end of the tibia and fibula. Enchondromatosis Ollier’s disease and ovarian juvenile granulosa cell tumor. On multipel, multiple discrete, hard swellings were palpable in both legs and hands.

The enchondromatosis syndrome includes Ollier diseaseMaffucci syndromespondyloenchondromatosis, metachondromatosis and generalized enchondromatosis.

Looking For More References? The diagnosis is based on clinical and conventional radiological evaluations. 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.

Enchondromatosis

It is rare and both sexes are equally affected. Both the father and the son had consanguineous parents. National Center for Biotechnology InformationU. Am J Med Genet.

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