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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The condition is non-hereditary and is thought to occur as a result of ollire and spontaneous mutations. Some authors make a distinction between Ollier disease and enchondromatosis on the basis of distribution. A large proportion X- ray pelvis with both hips AP view- multiple expansile lytic lesions in the metaphysis of right femur, both iliac bones and both pubic bones.
J Bone Joint Surg Am. Slagsvold and Larsen Halal and Azouz reported the case necondromatosis a boy who had platyspondyly and metaphyseal manifestations of enchondromatosis with severe involvement of the hands and feet compatible with generalized enchondromatosis, or Spranger type VI enchondromatosis.
Ovarian cancer 2nd ed. Additional information Further information on this disease Classification s 4 Gene s 3 Clinical signs and symptoms Publications in PubMed Other website s 9. Multiple enchondromatosis, Ollier disease. Case 7 Case 7. There was shortening of right leg which was noticed by the parents since 3 years of age. J Clin Diagn Res. We are determined to keep this website freely accessible. X-ray image showing enchondromas localized in the lower part of the radius of ollie 7-year-old girl with Ollier disease.
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Presence of unmineralized parts in the lesion should raise the suspicion for malignancy [ 3 ]. In 1 of these men, the RC mutation was carried in the germline and was inherited from the father, who had mild skeletal dysplasia but no evidence of enchondromas, similar to the findings in the father and son reported by Halal and Azouz CC HPO: Ollier disease enchondromatosis associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty.
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. With age, the cartilage may calcify in the typical “snowflake” pattern. From a review of the English literature sincethey concluded that the incidence of chondrosarcoma in this disorder is Views Read Edit View history.
This article has been cited by other articles in PMC. In a case of human enchondromatosis, Hopyan et al. The difficulties of stating the frequency of malignancy in oolier Recklinghausen neurofibromatosis and multiple exostoses from hospital records or reports is well known McKusick, The growth of these enchondromas usually stops after skeletal maturation.
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Multiple Enchondromatosis: Olliers Disease- A Case Report
Of these 19, 15 were found ecnondromatosis have the same mutation in each of their tumor samples that were examined. The documents contained in this web site are presented for information purposes only. Due to its rarity literature focusing on olliers disease is limited. Raine syndrome Osteopoikilosis Osteopetrosis. Support Center Support Center.
If growth occurs then, this raises the possibility of malignant transformation 4. Enconrromatosis examination, multiple discrete, hard swellings were palpable in both legs and hands. Clinical presentation is usually with deformity and pain present only during periods of rapid growth 3,4. Enchondromas are common intraosseous tumours which are usually benign and develop in close proximity to growth plate cartilage.
In their classification of the enchondromatoses, Spranger et al. The osteochondromas seen in hereditary multiple exostosis are located at the bone surface whereas enchondromas are located in the centre of bones [ 3 ]. Samples from multiple tumors range, ; mean, 2. PTHR1 mutations associated with Ollier disease result in receptor loss of function. CiteScore measures average citations received per document published.
Encondromatosis múltiple, enfermedad de Ollier | Anales de Pediatría (English Edition)
Symptoms begin with the appearance of palpable bony masses on a finger or a toe, an asymmetric shortening of an extremity with limping, osseous deformities associated with or without pathologic fractures [ 3 ]. Int J Clin Encondromatosie Pathol.
The father was short of stature and had only moderate platyspondyly. Case 2 Case 2. Enchondromas are common benign cartilage tumors of bone. Expert curators review the literature and olpier it to facilitate your work.