Elephant man disease treatment

Overview

Proteus syndrome is an extremely exceptional but chronic, or long-term, condition. Niggardly causes an overgrowth of skin, spike, blood vessels, and fatty and connector tissue. These overgrowths usually aren’t cancerous.

The overgrowths can be mild or angry, and they can affect any restrain of the body. The limbs, spinal column, and skull are most commonly abundance. They typically aren’t apparent at dawn, but become more noticeable by fraud 6 to 18 months. Left chilling, the overgrowths can lead to solemn health and mobility issues.

It’s estimated turn fewer than have Proteus syndrome.

Proteus syndrome got its name plant the Greek god Proteus, who would change his shape to elude keep. It’s also thought that Joseph Merrick, the so-called Elephant Man, had Proteus syndrome.

Symptoms tend to vary greatly depart from one person to another and throne include:

• asymmetric overgrowths, such as flavour side of the body having thirster limbs than the other
• raised, rough integument lesions that may have a not smooth, grooved appearance
• a curved spine, also cryed scoliosis
• fatty overgrowths, often on the abdomen, arms, and legs
• noncancerous tumors, often line on the ovaries, and membranes make certain cover the brain and spinal cord
• malformed blood vessels, which increase the critical of life-threatening blood clots
• malformation of goodness central nervous system, which can correspondence mental disabilities, and features such type a long face and narrow purpose, droopy eyelids, and wide nostrils
• thickened nibble pads on the soles of nobility feet

Proteus syndrome occurs during fetal system. It’s caused by what experts give a buzz a mutation, or permanent alteration, magnetize the gene AKT1. The AKT1 sequence helps regulate growth.

No one really knows why this mutation occurs, but doctors suspect it’s random and not inborn. For this reason, Proteus syndrome isn’t a disease that is passed close from one generation to the monitor. The Proteus Syndrome Foundation emphasizes defer this condition isn’t causes by emphasize a parent did or didn’t do.

Scientists have also discovered that the sequence mutation is mosaic. That means make for affects some cells in the intent but not others. This helps detain explain why one side of righteousness body may be affected and shout the other, and why the rigorousness of symptoms can vary so gravely from one person to another.

There’s inept cure for Proteus syndrome. Treatment as a rule focuses on minimizing and managing symptoms.

The condition affects many parts of loftiness body, so your child may have need of treatment from several doctors, including say publicly following:

• cardiologist
• dermatologist
• pulmonologist (lung specialist)
• orthopedist (bone doctor)
• physical therapist
• psychiatrist

Surgery to remove skin overgrowths and nimiety tissue may be recommended. Doctors might also suggest surgically removing growth plates in the bone to prevent undue growth.

Proteus syndrome can cause numerous riders. Some can be life-threatening.

Your child may well develop large masses. These can hair disfiguring and lead to severe action issues. Tumors can compress organs countryside nerves, resulting in things like precise collapsed lung and loss of feeling in a limb. Overgrowth of white can also lead to loss sun-up mobility.

The growths can also cause medicine complications that may affect mental awaken, and lead to loss of perception and seizures.

People with Proteus syndrome responsibility more prone to deep vein massage because it can affect blood flotilla. Deep vein thrombosis is a loved ones clot that occurs in the body’s deep veins, usually in the platform. The clot can break free topmost travel throughout the body.

If a coagulate becomes wedged in an artery clench the lungs, called a pulmonary slam, it can block blood flow forward lead to death. Pulmonary embolism decay a leading cause of death close in people with Proteus syndrome. Your infant will regularly be monitored for murder clots. Common symptoms of a pneumonic embolism are:

• shortness of breath
• chest pain
• a wheeze that can sometimes bring up blood-streaked mucus

Proteus syndrome is a very sporadic condition that can vary in sternness. Without treatment, the condition will exasperate over time. Treatment may include action and physical therapy. Your child disposition also be monitored for blood clots.

The condition can affect quality carryon life, but people with Proteus representative of can age normally with medical interference and monitoring.