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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Ollier disease enchondromatosis associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty.
The prognosis is dependent on the extent and severity of the disease. Biopsy of the lesions revealed increased cellularity, pleomorphic nuclei, and associated microcyst formation, all of which hinted towards a low grade fibrillary astrocytoma. Clinical Synopsis Toggle Dropdown.
Multiple enchondromatosis (Ollier disease)
Case 6 Case 6. Main biochemical alterations Slightly high PTH. In Spranger et al summarized six different classes of enchondromatosis based on radiographic features.
Tubular bones in the hands are expanded by the lesion and become globular. About Blog Go ad-free. Edit article Share article View revision history. Abdominal ultrasound, mammography, cerebral computed tomography CT scan, and cervical CT were normal.
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Lifelong monitoring is required in olliers patients given the risk of malignant transformation [ 6 ]. The diagnosis of Maffucci’s syndrome enchondromagosis established. The characteristic x-ray finding include multiple, radiolucent, homogenous oval or elongated lesions with a well defined slightly thickened bony margin [ 3 ].
Clinical presentation is usually with deformity and pain present only during periods of rapid growth 3,4. Typically the tumors involve the short bones of the hands and feet. Metaphyseal dysplasia Jansen’s metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia. Inheritance Ollier disease and Maffucci syndrome are non-inherited disorders while spondyloenchondromatosis is inherited encuondromatosis an autosomal recessive disorder. Figure 2 and 3. J Bone Joint Surg Am.
Mahafza compared this case to several others reported previously, where patients with Olliers disease developed primary brain tumors, and suggested that a continuum exists between the multple of Mafucci Syndrome and Olliers Disease. Physical examination showed a marked shortening of both upper and lower limbs and cutaneous hemangioma in the legs.
Angular deformities and growth disturbances can be noticed, which result in shortening of the long bones, and inequality in the length of the legs. Treatment depends on the type of multople it may include surgery, amputation, bone grafting and sclerotherapy.
In the original description of Ollier disease, the enchondromas were predominantly confined to one side and limited to the limbs. Am J Med Genet. Osseous and chondromatous neoplasia Neoplasm stubs. Contribute Enchondromaotsis contribute with your findings to the content of this record, please fill the CTGA Database Information Submission Form and email it, along with supportive documents, to cags emirates.
The biopsy of the third right metacarpal showed enchondroma tissue. Epidemiology in the Arab World View Map.
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.
There is no medical treatment for enchondromatosis, but treatment of Ollier enchondormatosis is usually conservative.
Cortical erosion, pathological fracture and extension of the tumor into soft tissues can be considered as a sign of malignancy. Case report and review of the literature. Olliers disease and maffucci syndrome are usually non-familial disorders [ 3 ]. Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al.
In distinction from solitary lesions, enchondromas of enchondromatosis are more likely to be hypercellular in nature, yet enchonvromatosis still considered benign in the absence of other aggressive findings Int J Clin Exp Pathol.
Vaz and Turner described a case of Ollier disease associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty. Radiology revealed several abnormalities.
Enchondromatosis, Multiple – CAGS
In their classification of the enchondromatoses, Spranger et al. Am J Med Genet. Expert curators review the literature and organize it to facilitate your work. From Wikipedia, the free encyclopedia.
In patients with limb discrepancy distraction osteogenesis with the use of ilizarov instrument is indicated [ 2 ]. Surgery is performed in cases of complications and malignant transformation. Surgical intervention is necessary in case of pathological fractures, growth defect and malignant transformation [ 1 ].
Most cases of Ollier disease have been enchondfomatosis Halal and Azouz, Published online Jan 1. They can occur anywhere but most frequently involve the short tubular bones of the hands and feet. If involvement of the lower limbs is significant, leg length discrepancy may occur. Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia.