Ollier’s disease is a rare condition that causes benign growths, or enchondromas, to develop in the bone cartilage. Typically these growths affect the arm and leg bones. If a person does not develop symptoms, surgical intervention may not be necessary.
While the growths start benign, there is a substantial risk of them becoming malignant and causing cancer. Even so, people with the condition can expect to have a typical lifespan.
A similar condition is one called Maffucci syndrome. However, the appearance of the enchondromas can help differentiate the two.
Read on to learn more about Ollier’s disease, including what might cause it, how it might progress to cancer, and how it differs from Maffucci syndrome.
Louis Xavier Édouard Léopold Ollier first describes Ollier’s disease in 1899 when he reported a case of limb deformity with atypical cartilage growth. Cartilage is the flexible tissue that lines joints and other parts of the body.
A person with Ollier’s disease develops multiple benign growths — known as enchondromas — in their bone cartilage. They most commonly grow in the leg and arm bones, especially in the hands and feet.
However, the growths can also develop in the skull, ribs, and spine.
Most people with Ollier’s disease can carry out normal activities. However, this depends on the degree of malformation of their bones.
Experts may also refer to the condition as:
- multiple encondromatosis
Ollier’s disease is rare. About 1 in 100,000 people are living with this condition.
Typically, bone growth occurs at the end of the bone. However, in people with Ollier’s disease, enchondromas develop near the end of bones. These lesions prevent bone growth.
Enchondromas often do not form anymore once a person has stopped growing, usually when they reach early adulthood.
An infant may have symptoms of Ollier’s disease at birth. However, signs that a person has the condition are not usually noticeable until around the age of 5 years.
The enchondromas associated with Ollier’s disease can cause:
- severe bone deformity
- shortened limbs
People with the condition have underdeveloped muscles or short stature.
Other symptoms may include:
- swollen bones
- a palpable bone mass
According to the Genetic and Rare Diseases Information Center (GARD), researchers do not fully understand what causes Ollier’s disease. However, they have investigated possible genetic links.
Is it a hereditary condition?
No, Ollier’s disease is not a hereditary condition.
Even though the condition is not hereditary, researchers believe alterations in specific genes may cause the condition. Many people develop Ollier’s disease due to mutations in the IDH1 or IDH2 genes, which are responsible for making specific enzymes — isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2.
These enzymes partake in a chemical reaction and lead to the formation of NADPH. The NADPH molecule is important for many cellular processes in the body.
A person with the mutation does not usually pass it on to any children they may have.
Mutations in other genes may also lead to Ollier’s disease (for example, changes in the PTHR1 gene).
- chondrosarcoma, a type of cancer affecting bone cartilage
- glioma, a type of cancer affecting the brain/spinal cord
- ovarian juvenile granulosa cell tumor, a type of cancer affecting the ovaries in young females
Genes may also play a role in determining whether a person with Ollier’s disease develops a specific type of cancer. A
Doctors can usually diagnose Ollier’s disease on the basis of a clinical assessment and imaging scans.
Some imaging scans that can be useful to the diagnostic process are:
Regular blood tests can be beneficial to help doctors diagnose the condition. However, other generic tests may not be as useful.
Unless a person develops symptoms, they may not require surgery or medical intervention.
However, the doctor may opt for surgery if the person has:
- growth abnormalities
- fractures associated with disease
- malignant changes in bone or surrounding structures
Surgery may involve the following procedures:
- curettage, or bone scraping to remove lesions
- bone transplants to repair and rebuild the damaged bone
- joining bones together
- fixing any discrepancy between the length of limbs
- limb straightening
Additionally, people with Ollier’s disease require ongoing monitoring due to the
Ollier’s disease shares some similarities with another condition called Maffucci syndrome.
Both conditions can lead to the following
- multiple swellings on the hands and feet
- joint deformity
- joint mobility limitations
- scoliosis (an S-shaped spine)
- shortened bones
- different leg lengths
- abnormal gait
- loss of function
However, there are many differences between the two conditions.
While individuals with Maffucci syndrome also have multiple enchondromas, they can experience red or purple skin lesions. These are benign hemangiomas, which are benign clusters of proliferating small blood vessels.
Maffucci syndrome also differs in that it tends to
Ollier’s disease, also known as enchondromatosis, is a rare bone disorder that mainly affects bone growth in children and young adults.
The condition causes growths to develop in the cartilage near the ends of the bones, usually in the hands and feet. Mutations in certain genes, such as the IDH1 and IDH2, can lead to Ollier’s disease.
The growths start out benign. However, they carry an up to