What is multiple Enchondromatosis?
Multiple enchondromatosis (Ollier disease) is a rare developmental abnormality characterized by the presence of enchondromas in the metaphyses and diaphyses of multiple bones. The disease appears in early childhood and is neither hereditary nor familial and is considered to be a dysplasia.
What causes Ollier’s disease?
In most people with Ollier disease, the disorder is caused by mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes called isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2, respectively.
What is Ollier’s and Maffucci syndrome?
Ollier disease (enchondromatosis) and Maffucci syndrome are rare, classically nonfamilial conditions that are characterized by multiple intramedullary (central) cartilaginous tumors. In Maffucci syndrome, tumors also occur as soft tissue hemangiomas, which are absent in Ollier disease.
Can enchondromas become malignant?
Single enchondromas rarely become cancerous, though the chances are a little higher in patients with Ollier disease and Maffucci syndrome. When enchondromas do become cancerous, they usually become a type of malignant cartilage tumor called a chondrosarcoma.
What is polyostotic fibrous dysplasia?
Polyostotic fibrous dysplasia — More than one bone is involved. It can affect more than one bone within the same limb or multiple bones throughout the body. This form of the condition is usually more severe. For this reason, it is typically discovered earlier in life.
How is Maffucci syndrome diagnosed?
The diagnosis of Maffucci syndrome is made by a detailed history, thorough physical examination and radiologic assessment. Surgical removal and microscopic study of the skeletal lesions confirm the presence of enchondroma and distinguish the tumor from chondrosarcoma.
Should enchondromas be removed?
If an enchondroma isn’t causing you any pain, it usually doesn’t need to be treated. If you have multiple enchondromas or if an enchondroma is causing you pain, your healthcare provider will typically recommend surgery to remove them. Multiple enchondromas can weaken your bones and cause fractures.
Can osteoblastoma become malignant?
Although osteoblastoma is considered a benign tumor, there have been very rare cases in which an osteoblastoma has transformed into a malignant (cancerous) tumor.
How rare is polyostotic fibrous dysplasia?
Fibrous dysplasia is rare, accounting for just about 7% of all benign bone tumors. It can affect any bone in the body, but most often occurs in the: Femur (thighbone)
What is the pathophysiology of fibrous dysplasia?
Fibrous dysplasia is a typically benign bone lesion characterized by intramedullary fibro-osseous proliferation secondary to altered osteogenesis. The polyostotic form often presents in childhood. Malignant transformation is rare, and remote radiation therapy has been reported as a risk factor.
What is the risk of malignant transformation of dysplasia?
Fibrous dysplasia has a very low risk of malignant transformation. May develop cysts or cartilaginous components and hence termed fibrocystic dysplasia and fibrocartilaginous dysplasia. It may also be the source of an aneurysmal bone cyst.
What is fibro cartilaginous dysplasia (FD lesion)?
Small islands of cartilage, which later ossify and are seen as dense punctate or flocculent calcifications within FD lesions, can also be seen. This combination of enchondromata within an FD lesion, referred to as fibro cartilaginous dysplasia, is most frequently seen in the proximal femur.
Is enchondromatosis genetic?
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. Once the individual stops growing then in general, so do the enchondromas.