About diaphyseal aclasis

What is diaphyseal aclasis?

Hereditary multiple osteochondromas (HMO) is a rare genetic disorder characterized by multiple benign (noncancerous) bone tumors that are covered by cartilage (osteochondromas), often on the growing end (metaphysis) of the long bones of the legs, arms, and digits. These osteochondromas usually continue to grow until shortly after puberty and may lead to bone deformities, skeletal abnormalities, short stature, nerve compression and reduced range of motion. Hereditary multiple osteochondromas is inherited as an autosomal dominant genetic condition and is associated with abnormalities (mutations) in the EXT1or EXT2 gene.


What are the symptoms for diaphyseal aclasis?

Hereditary multiple Osteochondromas is a rare disorder that affects bone growth. Bony tumors (exostoses or osteochondromas), covered with cartilage, typically appear in the growth zones (metaphyses) of the long bones adjacent to the areas where tendon and muscles attach to the bone. These growths vary in size and number among affected individuals, even within the same family. Some individuals will present with a few large “lumps” while others will show several small growths. The median age of diagnosis is three years and almost all affected individuals are diagnosed by 12 years of age.

In many cases, no treatment is required. If the exostoses are small, they may have little or no effect on the patient. However, in more severe cases, the growths may cause deformities of the forearm, knees, ankles, spine and/or pelvis. They may impose upon nerves, tendons and/or blood vessels, and interfere with movement or circulation, causing substantial Pain as a result of pinched nerves or compressed tendons.

Bones that develop exostoses most often are the upper arm (humerus), forearm, knee and shoulder blades (scapulae). Bowing of the forearm and ankle are the problems that most often require surgical correction.

Approximately 40 percent of affected individuals have Mild Short stature as a result of shortened and/or bowed legs. If the vertebrae are affected, spinal cord compression may result, causing Numbness and/ or paralysis. Urinary obstruction has been observed due to exostoses of the pelvic area.

The bony growths that characterize this disorder continue to grow until shortly after puberty at which time normally new growth no longer develops. The risk for development of malignant (cancerous) tumors, mostly chondrosarcomas, is approximately 1 to 5%.

What are the causes for diaphyseal aclasis?

Hereditary multiple osteochondromas is inherited as an autosomal dominant genetic condition. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation in the affected individual. Approximately 10% of cases of HMO are thought to be the result of new mutations. At present two genes, EXT1 and EXT2, are known to show mutations in HMO patients and it is thought that these genes function as tumor suppressors. For some affected individuals no mutation in either gene is detected. In almost all these cases, the “mutation negative” patients do not have a familial history for exostoses. Most likely, they have an EXT1 or EXT2 mutation in only part of their body cells and the mutation is absent or undetectable in blood cells, which are usually used for DNA analysis. Data indicates that individuals with EXT1 mutations may have more severe effects than those with EXT2 mutations. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females.

What are the treatments for diaphyseal aclasis?

Surgery may be required to relieve pain, improve movement, restore normal circulation, or for cosmetic reasons. Malignant degeneration of a tumor is treated surgically, possibly in combination with chemotherapy and radiation therapy.

Most of the malignant degenerations to cancers are to cartilage tumors or chondrosarcomas, which are slow growing and generally insensitive to chemotherapy.

Monitoring the size of affected bones by annual scans to screen for malignant degeneration is sometimes recommended. Rapid growth and increased pain are signs of a possible malignant change.

Genetic counseling is recommended for affected individuals and their families. Other treatment is symptomatic and supportive.

What are the risk factors for diaphyseal aclasis?

Diaphyseal aclasis is a condition in which the bones in your arms and legs thin out and become deformed. It usually occurs in children, but it can also happen to adults. The condition starts early on in life, with symptoms like pain and swelling, but it can get worse over time.

Diaphyseal aclasis is caused by an imbalance of calcium, phosphorus, and vitamin D3 in your body. Usually this happens because you don't get enough calcium or vitamin D3 from your diet or from sunlight exposure.

There are several types of diaphyseal aclasis:

• Type 1: This type causes bone to thicken along the edges where it meets other bones. It is most common in children under 10 years old who are growing quickly and have high levels of growth hormone.

• Type 2: In this type of diaphyseal aclasis, there are more areas of thinning than thickening along the edges where bones meet each other. This type usually affects adults between ages 30-50 who have lower levels of growth hormone than they did when they were younger (like after menopause).

The risk factors of Diaphyseal aclasis include:

1. Age: The risk of diaphyseal aclasis increases as you age.

2. Gender: Women are more likely to be diagnosed with diaphyseal aclasis than men.

3. Other medical conditions: Diabetics, people with high blood pressure, or those who have had a stroke or brain injury are at an increased risk of developing diaphyseal aclasis.

4. Bone density: Patients with osteoporosis or osteopenia are at an increased risk of developing diaphyseal aclasis.

5. Genetics/family history: If someone in your family has been diagnosed with diaphyseal aclasis, you may be more likely to develop it yourself (though there are no guarantees).

Symptoms
Pain in the lower leg that worsens with activity,Numbness, tingling, and weakness in the foot or toes,A feeling of instability or giving way in the ankle and foot,Loss of balance or unsteadiness when walking
Conditions
Osteomalacia, which is a softening of the bones,Fractures, which can cause the bone to break through the cartilage and become deforme,Osteogenesis imperfecta, a genetic condition that causes brittle bones,Inflammation or infection of the joint, which may require surgery to fix
Drugs
Methotrexate,Corticosteroids,Antibiotics

Is there a cure/medications for diaphyseal aclasis?

There is no known cure for diaphyseal aclasis, but there are treatments available to help manage symptoms and provide pain relief.

The most common treatment for diaphyseal aclasis is physical therapy. Physical therapists can provide exercises and stretches that strengthen the muscles around your knee, as well as teach you how to walk differently to reduce pain.

In some cases, doctors may prescribe anti-inflammatory medications like ibuprofen to help reduce swelling and inflammation in the knee joint.

Medications for diaphyseal aclasis:

1. Nonsteroidal anti-inflammatory drugs (NSAIDs) are used to treat inflammation and reduce pain. They include aspirin, ibuprofen, naproxen sodium and others. These medications may be taken with or without food.

2. Corticosteroids are often given with NSAIDs to reduce inflammation and relieve pain. Corticosteroids are also used alone to treat severe cases of diaphyseal aclasis that do not respond to NSAIDs or physical therapy. Corticosteroids may be injected directly into the knee joint or taken by mouth in pill form.

3. Opioids are prescription painkillers that contain narcotics such as codeine or morphine. They work by changing how your brain responds to pain signals from your body. Opioids can help relieve moderate to severe pain from diaphyseal aclasis but can also cause side effects such as constipation, nausea or vomiting.

4. Bisphosphonates—These drugs can help prevent further damage if you have already suffered a fracture or other injury to the affected bone. Some people take them for life, while others only take them until they've healed.

5. Medicines that stimulate growth plate cells—These drugs may be given alone or in combination with other medications depending on the severity of your symptoms and whether you've had surgery to remove part or all of your breastbone (sternum).

Symptoms
Pain in the lower leg that worsens with activity,Numbness, tingling, and weakness in the foot or toes,A feeling of instability or giving way in the ankle and foot,Loss of balance or unsteadiness when walking
Conditions
Osteomalacia, which is a softening of the bones,Fractures, which can cause the bone to break through the cartilage and become deforme,Osteogenesis imperfecta, a genetic condition that causes brittle bones,Inflammation or infection of the joint, which may require surgery to fix
Drugs
Methotrexate,Corticosteroids,Antibiotics

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