ENCHONDROMATOSIS MULTIPLE PDF

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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Enchondromatomosis with severe platyspondyly in two brothers.

Am J Med Genet. Am J Med Genet A. Enchondromas are common benign cartilage tumors of bone. Genome-wide analysis of Ollier disease: Prevention Diagnosis Living with Sarcopenia.

There is no medical treatment for olliers disease. Calcium content of common foods What is Osteoporosis? CC HPO: Enchondromas in olliers disease present a risk of malignant transformation into chondrosarcomas.

Enchondromatosis – Wikipedia

Abdominal examination at 37 weeks of gestation revealed a well grown fetus corresponding to dates. Unfortunately, it is not free to produce. Ollier disease can be considered a synonym for enchondromatosis. Since there is a risk for malignant transformation in these tumours a careful lifelong followup is necessary.

More interestingly, it has been reported that the PTHrP parathyroid hormone-related protein receptor has been implicated as a gene responsible for cases of enchondromatosis in patients with a family history of mild skeletal dysplasia in their male parents.

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However, there was a case reported by Robinson et al which showed autosomal dominant inheritance of spondyloenchondrodysplasia. Clinical presentation is usually with deformity and pain present only during periods of rapid growth 3,4.

Please consider making a donation now and again in the future. There is enchobdromatosis 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 ]. Radiographic findings typically are long low-density streaks projecting through the diaphyses into the epiphyses of the long bone.

Treatment Treatment depends on the type of enchondromatosis; it may include surgery, amputation, bone grafting and sclerotherapy.

Multiple Enchondromatosis: Olliers Disease- A Case Report

Case report and review of the literature. This rare combination is known enchondrpmatosis metachondromatosis. Due to its rarity literature focusing on olliers disease is limited.

This case report discusses the case of a year-old female who presented with difficulty in enchondrmatosis, leg pain and multiple painless swellings in hands and legs for a period of 2 years. About Blog Go ad-free.

Multiple Enchondromatosis: Olliers Disease- A Case Report

Edit History Tasneem Obeid: The diagnosis of Ollier disease is based on clinical multuple and radiographs that show multiple radiolucent lesions in the metaphysic. The clinical features of enchondromatosis depend upon the extent of disease and ranges from few small lesions to multiple, widely distributed lesions causing marked skeletal deformation. Atlas of Genetics and Cytogenetics in Oncology and Haematology.

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Enchondromatisis their classification of the enchondromatoses, Spranger et al. Physical examination showed a marked shortening of both upper and lower limbs and cutaneous hemangioma in the legs.

Soft tissue hemangiomas Maffucci syndromemultiple enchondromas with skeletal deformities and potential risk for malignant change to chondrosarcoma.

Main biochemical alterations Slightly high PTH. The pathogenesis of olliers disease is unknown [ 2 ]. There was shortening of right leg which was noticed by the parents since 3 years of age.

Chondrosarcoma in Maffucci’s syndrome. Is it all in the genes? Although the enchondromas themselves are benign, patients with enchondromatosis carry a higher risk of developing sarcomas, especially osteosarcomas, and chondrosarcomas.