It is an extremely rare but chronic or long-term condition.
It causes an overgrowth of skin, bones, blood vessels, and adipose and connective tissue. These overgrowths are generally not cancerous.
Overgrowths can be mild or severe and can affect any part of the body. The extremities, the spine, and the skull are the most commonly affected.
They are usually not apparent at birth, but become more apparent from 6 to 18 months of age. If left untreated, proliferation can lead to serious health and mobility problems.
It is estimated that fewer than 500 people worldwide have Proteus syndrome.
Did you know
Proteus syndrome got its name from the Greek god Proteus, who would change form to evade capture. It is also believed that Joseph Merrick, the so-called “Elephant Man”, had Proteus syndrome.
Symptoms of Proteus syndrome
Symptoms tend to vary greatly from person to person and can include:
- Asymmetric overgrowths, such as one side of the body that has longer limbs than the other.
- Raised and rough skin lesions, which may also have a rough and ridged appearance.
- A curved spine, also called scoliosis.
- Fat overgrowth, often on the stomach, arms, and legs.
- Non-cancerous tumors, which are often found in the ovaries, as well as in the membranes that cover the brain and spinal cord.
- Malformed blood vessels, which increase the risk of life-threatening blood clots .
- Malformation of the central nervous system, which can cause mental disabilities and features such as a long, narrow face, drooping eyelids, and wide nostrils.
- Thickened pads of skin on the soles of the feet.
Proteus syndrome occurs during fetal development, it is caused by what experts call a mutation, or permanent alteration of the AKT1 gene. This gene helps regulate growth.
No one really knows why this mutation occurs, but doctors suspect that it is random and not inherited. For this reason, Proteus syndrome is not a disease that is passed from one generation to another.
The “Proteus Syndrome” Foundation emphasizes that this condition is not caused by something the parents did or did not do.
Scientists also discovered that the genetic mutation is a mosaic. That means it affects some cells in the body but not others. This helps explain why one side of the body may be affected and not the other, as well as why the severity of symptoms can vary greatly from person to person.
Diagnosing Proteus syndrome
Diagnosis can be difficult. The condition is rare and many doctors are unaware of it. The first step a doctor can take is to biopsy a tumor or tissue and test the sample for the presence of a mutated AKT1 gene.
If one is found, screening tests, such as X-rays, ultrasounds, and CT scans, can be used to look for internal masses.
There is not yet a cure for Proteus syndrome. Treatment generally focuses on minimizing and managing symptoms.
The condition affects many parts of the body, so your affected person may need treatment from various doctors, including the following:
- Pulmonologist (lung specialist).
- Orthopedist (bone doctor).
Surgery may be recommended to remove excessive skin growth and excess tissue. Doctors may also suggest that the growth plates in the bone be surgically removed to prevent overgrowth.
Complications of this syndrome
Proteus syndrome can cause numerous complications. Some can be life threatening.
The affected person can develop large masses, these would achieve disfigurement and lead to serious mobility problems. Tumors can compress organs and nerves, resulting in lung collapse and loss of sensation in a limb. Overgrowth of bone can also lead to complete loss of mobility.
The growths can also cause neurological complications that can affect mental development and lead to vision loss and seizures.
People with Proteus syndrome are more prone to deep vein thrombosis because it can affect the blood vessels. This disease is a blood clot that occurs in the deep veins of the body, usually in the leg. The clot can break free and travel throughout the body.
If a clot gets stuck in an artery in the lungs, known as a pulmonary embolism, it can block blood flow and cause death.
Pulmonary embolism is one of the leading causes of death in people with Proteus syndrome. The affected person will need to be regularly monitored for blood clots. Common symptoms of a pulmonary embolism are:
- Difficulty to breathe continuously.
- Chest pain.
- A cough that can sometimes cause bloody mucus.
Proteus syndrome is a very rare condition that can vary in severity. Without treatment, the condition will get worse over time.
Treatment may include surgery and physical therapy. The affected person will also be monitored for blood clots that commonly occur in this condition.
The condition can affect quality of life, but people with Proteus syndrome have the possibility of aging normally with proper medical intervention and management of the condition.