[ad_1]
This syndrome can be diagnosed on the basis of symptoms and observable signs on the skin and in some cases biopsies or genetic tests.
They say that he was born with skin-stone . This is Jaiden Rogers a 12-year-old boy fighting stiff skin syndrome rare in Alamosa, Colorado.
Rigid skin syndrome is a rare disease that currently has 41 cases worldwide. The so-called "stone skin" is manifested by the hardness and thickening of the skin of the entire body.
This thickening of the skin, according to the National Center for the Advancement of Translational Science can cause contractures of flexion because it limits the mobility of the joints.
The first symptoms of rigid skin syndrome can appear from birth to childhood.
We recommend: New genetic treatment would regenerate the liver
Stone skin: the rare syndrome of rigid skin
Symptoms. The syndrome has the following symptoms: muscle weakness, short stature, slow growth, scoliosis, loss of body fat, paralysis of eye muscles, and excessive hair growth.
Thus, the parents of Jaiden Rogers try to find a cure for your child
It all started when Tim Rogers the father of the child noticed a small bump on the right thigh of the child (behind the knee) that was right under the skin.
Despite his visits to the dermatologist after the discovery, the tumor continued to grow each week until calcifications invaded his joints resulting in loss of mobility.
This syndrome is also expensive and painful; the child's parents mortgaged their home three times to cover medical expenses and chemotherapy.
The medications prescribed for this syndrome are powerful drugs that make the child sleep up to 18 hours a day.
family raises 1.5 million dollars to cover 1 year of treatment with special stem cells for the treatment of rare skin diseases 
syndrome Rigid skin is caused by mutations or changes in the gene FBN1 .
This gene is responsible for establishing signals for the body to produce fibrillin-1.
This protein has several relevant functions:
1. Forms elastic fibers that allow blood tissues, skin and ligaments to stretch
2. It provides support in various tissues and bones.
We also suggest: Approving the first sensor to measure glucose
Diagnosis. This syndrome can be diagnosed on the basis of symptoms and observable signs in the skin and in some cases biopsies or genetic tests.
Regarding treatment, there is still no treatment or treatment that reverses the symptoms. d, s, id) {
var js, fjs = d.getElementsByTagName (s) [0];
if (d.getElementById (id)) returns;
js = d.createElement (s); js.id = id;
js.src = "http://connect.facebook.net/en_LA/sdk.js#xfbml=1&version=v2.5";
fjs.parentNode.insertBefore (js, fjs);
} (document, 'script', 'facebook-jssdk'));
[ad_2]
Source link
