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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Ollier disease

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or encojdromatosis. The differential diagnosis for bone tumours is dependent on the age of the patient, with encondromxtosis very different set of differentials for the pediatric patient. Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia.

Find articles by George Sunny. Magnetic resonance imaging demonstrates lobulated lesions with intermediate signal ollidr on T2- weighted images and predominantly high signal intensity on T2- weighted sequences. Mutations were absent in DNA isolated from the blood, muscle, or saliva of the subjects. Halal and Azouz reported the case of 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.


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Orphanet: Encondromatosis

George Sunny1 V. Case Report A year-old female patient presented to our hospital with difficulty in walking, leg pain and multiple swellings in hands and leg for 2 years.

Overlying skin was normal. Slagsvold and Larsen Detailed information Article for general public Svenska Most patients have bilateral involvement but often significant asymmetry 4. With age, the cartilage may calcify in the typical “snowflake” pattern.

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Multiple Enchondromatosis: Olliers Disease- A Case Report

Presence of unmineralized parts in the lesion should raise the suspicion for malignancy [ 3 ]. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

Olliers disease is a rare disease characterized by widespread enchondromas with a unilateral predominance, in early childhood.

Javier Tejada Gallego a. Case 9 Case 9.

Conclusion Enchondromas are common intraosseous tumours which are usually benign and develop in close proximity to growth plate cartilage. Case 6 Case 6. Most cases of Ollier disease have been sporadic Halal and Azouz, Subscribe to our Newsletter. Signs of malignancy should be looked for which include cortical erosion, extension of the tumour into soft tissues, and irregularity or indistinctness of the surface of the tumour.


CC HPO: 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. Support Center Support Center. For all other comments, please send your remarks via contact us. Raine syndrome Osteopoikilosis Osteopetrosis. Olliers disease is characterized by the presence of at least three enchondromas [ 1 ]. Dominant inheritance with reduced penetrance is possible.

The extent of disease is highly variable and thus so is the degree of impairment. J Clin Diagn Res. This page was last edited on 14 Octoberat Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or encondromatosiw distributed enchondromas throughout the metaphyses of the long bones.

There are a few instances of familial occurrence.

Tamimi and Bolen had described the same association. Since there is a enfondromatosis for malignant transformation in these tumours a careful lifelong followup is necessary. Chondrosarcoma in Maffucci’s syndrome.

Log in Sign up. The prevalence of this disease is 1 in ,