Ollier’s disease, also known as enchondromatosis, frequently occurs in the small bones in the hands and toes (phalanges) and the long bones behind the phalanges, called metatarsals. This condition is characterized by multiple enchondromas, which are noncancerous growths that develop within the bone. Some of these growths form due to an injury or trauma to the toe, which results in the formation of the bony irregularity or prominence.
Causes and Symptoms
The cause of Ollier disease is not understood, but generally it is caused by mutations in one of three genes, which are PTH1R, IDH1, or IDH2. This foot condition is not usually inherited from a parent. The cells that have the mutation are where these enchondromas develop. In cases where this condition is inherited from a parent, the gene mutation is present in every cell in the body and tends to skip a generation.
For some people with Ollier disease, signs and symptoms are often present at birth, but more often, the symptoms will appear in the first decade of life. The symptoms of this condition include:
- Multiple bony masses in fingers of toe
- Asymmetrical shortening of extremity
- Shortened and deformed bones
- Breakdown of bones
- Malignant transformations may occur
This disease is generally diagnosed after clinical examination that matches the symptoms of Ollier disease. This exam may include MRIs, x-rays, and CT scans in order to see the bones more clearly. Biopsies are also used to look for features that are characteristic of Ollier disease in the enchondromas.
As with the majority of enchondromas, Ollier’s Disease generally requires no treatment. If the enchondromas are affecting physical abilities, treatment can help. Surgery or joint replacement might be a great treatment option, however, treating Ollier’s disease with surgery can sometimes cause more enchondromas to develop. In cases where the tumors are aggressive and begin destroying bone tissue do they require further attention, often surgical removal. Physical therapy can also help. The goal of these treatments is to reduce pain and allow the person affected to walk with a normal gait.
Whether you have Ollier’s disease or another foot condition, Dr. Nathan Lucas can help you help diagnose your condition and find the right treatment for you. Be sure to click here to contact Renuva Xtremity to schedule an appointment.