What is Maffucci syndrome?

What is Maffucci syndrome?

Learn more Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones.

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Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones.

What are enchondromas?

An enchondroma is a type of noncancerous bone tumor that begins in cartilage. Cartilage is the gristly connective tissue from which most bones develop. Cartilage plays an important role in the growth process. There are many different types of cartilage in the body.

What is a Chondroid lesion?

Abstract. Chondroid tumors are a heterogeneous group of neoplasms that all share the production of chondroid matrix. This ranges from a fetal type to mature hyaline cartilage and mirrors its imaging characteristics.

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 a Chondroblastoma?

A chondroblastoma is a rare type of noncancerous bone tumor that begins in cartilage. This is the specialized, gristly connective tissue from which most bones develop. It plays an important role in the growth process. There are many different types of cartilage in the body.

Do enchondromas need to be removed?

In the majority of cases, enchondromas do not require treatment. In rare cases, however, multiple tumors may weaken the bone, causing it to fracture. When this occurs, surgery may be needed to remove the tumor and prevent additional fractures.

Can enchondromas go away?

Typically, no treatment is necessary for an enchondroma. Most abnormalities detected within the bone can be rechecked with normal x-rays over a period of time. If the tumor looks like an enchondroma, stays the same or goes away, then there is generally no need for ongoing surveillance.

What is a Chondroid rest?

A chondroid lesion less than 1.0 cm in size is referred to as a cartilaginous rest, an indolent lesion.

What is Chondroid calcification?

Rings and arcs calcification is characteristic of chondroid lesions, such as enchondromas and chondrosarcomas. It is due to endochondral mineralization of multiple hyaline cartilage nodules and is similar to popcorn calcification, which has rings and arcs on the background of more amorphous calcification.

Is Ollier’s disease painful?

Some people with Ollier’s disease have no symptoms at all. But common symptoms include an aching pain that won’t go away or a swelling or lump that makes the bone look a funny shape. Often the bone with a lot of cartilage in it grows more slowly and so sometimes one leg or arm is shorter than the other.

How rare is Ollier’s disease?

Affected Populations The estimated prevalence of the disease is 1/100,000. Ollier disease is a very rare disorder that affects males and females in equal numbers. Symptoms are most often observed in children but can occur in adolescents and adults. This disorder can affect all races.

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. It tends to be unilateral and localized to one extremity.

What are the symptoms of an enchondroma?

With an enchondroma, you may have no symptoms at all. The following are the most common symptoms of an enchondroma. However, each person may experience symptoms differently. Symptoms may include: Hand pain, if the tumor is very large or if the affected bone has weakened and caused a hand fracture.

What are the symptoms of multiple sclerosis?

Multiple sclerosis. Multiple sclerosis. In multiple sclerosis, the protective coating on nerve fibers (myelin) is damaged and may eventually be destroyed. Depending on where the nerve damage occurs, MS can affect vision, sensation, coordination, movement, and bladder and bowel control. Multiple sclerosis (MS) is a potentially disabling disease

What is enchondromatosis Ollier disease?

Enchondromatosis (Ollier disease) is a rare condition resulting from the presence of multiple cartilaginous tumors in the metaphyses of growing bones, especially tubular bones. Characteristic deformities result from direct expansion of the tumors and from reduced linear growth of the affected bones.