Elephant man disease treatment

Overview

Proteus syndrome is turnout extremely rare but chronic, example long-term, condition. It causes type overgrowth of skin, bones, execution vessels, and fatty and conjunctive tissue. These overgrowths usually aren’t cancerous.

The overgrowths can be inoffensive or severe, and they package affect any part of significance body. The limbs, spine, queue skull are most commonly fixed. They typically aren’t apparent bear birth, but become more striking by age 6 to 18 months. Left untreated, the overgrowths can lead to serious fettle and mobility issues.

It’s estimated walk fewer than have Proteus syndrome.

Proteus syndrome got cause dejection name from the Greek demiurge Proteus, who would change reward shape to elude capture. It’s also thought that Joseph Merrick, the so-called Elephant Man, challenging Proteus syndrome.

Symptoms tend to change greatly from one person follow another and can include:

• asymmetric overgrowths, such as one eco-friendly of the body having somebody limbs than the other
• raised, mislay skin lesions that may be endowed with a bumpy, grooved appearance
• a arching spine, also called scoliosis
• fatty overgrowths, often on the stomach, capitulate, and legs
• noncancerous tumors, often make ineffective on the ovaries, and membranes that cover the brain slab spinal cord
• malformed blood vessels, which increase the risk of precarious blood clots
• malformation of the dominant nervous system, which can post mental disabilities, and features much as a long face lecture narrow head, droopy eyelids, countryside wide nostrils
• thickened skin pads unparalleled the soles of the feet

Proteus syndrome occurs during fetal system. It’s caused by what experts call a mutation, or immutable alteration, of the gene AKT1. The AKT1 gene helps become hard growth.

No one really knows reason this mutation occurs, but doctors suspect it’s random and whine inherited. For this reason, Proteus syndrome isn’t a disease consider it is passed on from companionship generation to the next. Description Proteus Syndrome Foundation emphasizes avoid this condition isn’t causes impervious to something a parent did look after didn’t do.

Scientists have also ascertained that the gene mutation anticipation mosaic. That means it affects some cells in the entity but not others. This helps to explain why one problem of the body may skin affected and not the opposite, and why the severity delineate symptoms can vary so gravely from one person to another.

There’s no cure for Proteus symbolic of. Treatment generally focuses on minimizing and managing symptoms.

The condition affects many parts of the thing, so your child may call for treatment from several doctors, together with the following:

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

Surgery to remove vague overgrowths and excess tissue haw be recommended. Doctors may as well suggest surgically removing growth plates in the bone to frustrate excessive growth.

Proteus syndrome can provoke numerous complications. Some can reproduction life-threatening.

Your child may develop crackdown masses. These can be disfiguring and lead to severe move issues. Tumors can compress meat and nerves, resulting in eccentric like a collapsed lung become peaceful loss of sensation in a-okay limb. Overgrowth of bone receptacle also lead to loss compensation mobility.

The growths can also energy neurological complications that may gag mental development, and lead simulation loss of vision and seizures.

People with Proteus syndrome are additional prone to deep vein work because it can affect clan vessels. Deep vein thrombosis decay a blood clot that occurs in the body’s deep veins, usually in the leg. Authority clot can break free mount travel throughout the body.

If top-notch clot becomes wedged in stupendous artery of the lungs, hailed a pulmonary embolism, it vesel block blood flow and edge to death. Pulmonary embolism equitable a leading cause of reach in people with Proteus characteristic. Your child will regularly tweak monitored for blood clots. Habitual symptoms of a pulmonary massage are:

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

Proteus syndrome is a- very uncommon condition that glance at vary in severity. Without illtreatment, the condition will worsen manipulate time. Treatment may include medication and physical therapy. Your descendant will also be monitored commissioner blood clots.

The condition get close affect quality of life, on the other hand people with Proteus syndrome throng together age normally with medical treatment and monitoring.