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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Open in a separate window. Main biochemical alterations Slightly high PTH.
The condition is non-hereditary and is thought to occur as a result of random and spontaneous mutations. Enchondromatomosis with severe platyspondyly in two brothers. Compared to chondrosarcomas which show poor demarcation, enchondromas tend to be well circumscribed. Ollier disease enchondromatosis associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty.
In enchondromas and chondrosarcomas enchondromaotsis 31 enchondromatosis patients Ollier disease or Maffucci syndrome, lacking platyspondyly from 3 different European countries, Rozeman et al.
Abstract Olliers disease is a rare disease characterized by widespread enchondromas nechondromatosis a unilateral predominance, in early childhood.
With the exception of Ollier disease, in which PTHR1 mutations are found in a very small subset of patients, the responsible genes for these extremely rare syndromes are so far unknown.
In addition, the patient was also found to have left abducent nerve palsy, both right limbs with reduced power, bilateral brisk reflexes, and Babinski sign on the right side.
Articles Cases Courses Quiz. Magnetic resonance imaging demonstrates lobulated lesions with intermediate signal intensity on T2- weighted images and predominantly high signal intensity on T2- weighted sequences. At times, inequality in the length of the legs may require surgical correction.
Enchondromas normally show a uniform pattern of mineralization.
From a review of the English enchondro,atosis sincethey concluded that the incidence of chondrosarcoma in this disorder is There are several cases reported in which disease is limited to multifocal involvement of a single bone while in other cases wide spread lesions and crippling deformation can be observed. The patients become symptomatic usually in the first decade of life. Mutations were absent in DNA isolated from the blood, muscle, or saliva of the subjects.
Report of four cases. Enchondromas are originally localized to the growth plate cartilage, and progressively migrate towards the diaphysis. Ollier disease and Maffucci multople are non-inherited disorders while spondyloenchondromatosis is inherited as an autosomal recessive disorder.
The inheritance pattern of Ollier disease is unknown but is thought to not be simply a Mendelian pattern. Case 4 Case 4. Case 8 Case 8.
Clinics Note Clinical behaviour is determined by size, number, location and evolution of enchondromas, age of onset and of diagnosis. Biopsy of enchondromatodis lesions revealed increased cellularity, pleomorphic nuclei, and associated microcyst formation, all of which hinted towards a low grade fibrillary astrocytoma.
An informed consent was taken and plain x-rays of legs, feet, hands, forearms, hip with pelvis, and thoracolumbar spine were obtained. Int J Clin Enchonndromatosis Pathol ;3: In Spranger et al summarized six different classes of enchondromatosis based on radiographic features.
Plain radiographs are sufficient for diagnosis. The diagnosis of Ollier disease is based on clinical features and radiographs that show multiple radiolucent lesions in the metaphysic. Enchondrojatosis diagnosis is based on clinical and conventional radiological evaluations.
C ] – Ovarian juvenile granulosa cell tumor with precocious pseudopuberty Radiology – Enchondromata Inheritance -? Two peculiar types of enchondromatosis.
Conclusion Enchondromas are common intraosseous tumours which are usually benign and develop in close proximity to growth plate cartilage.