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A Colorado male child has an passing rarified condition that ’s causing his skin to harden " like Isidor Feinstein Stone , " his parent say .
The 12 - year - old boy , Jaiden Rogers , has fuddled skin syndrome , and his parents are hoping to stop the banquet of the disease before he " becomes entomb within himself,“People magazinereported Wednesday ( July 18 ) .
Human skin under the microscope.
Jaiden was name with the condition in January 2013 , when his father noticed a hard lump on the son ’s right second joint , Fox Newsreported today ( July 20 ) . Since then , the painful disease has spread to his hips , stomach and back . But as it spreads to his chest area , it could cause breathing job , according to People . [ 27 Oddest Medical Cases ]
But what is stiff skin syndrome ?
Stiff skin syndrome causes a person ’s skin to harden and thicken across the entire body , accord to theGenetic and Rare Diseases Information Center(GARD ) . This inspissation can make it hard for a individual to move his or her joint , and can lead to joints becoming stuck in a bent stead . This typically touch the large joint in the organic structure — such as the shoulder , elbows and knees — though some masses also may have trouble flex their fingers , GARD says . The disease is reformist , meaning it gets worse over time .
unbendable skin syndrome may also affect a person ’s external respiration , accord to GARD .
Other symptoms can let in excessive hair emergence , red ink of organic structure rich , scoliosis , muscle weakness , slow growing and short stature , GARD order . Problems with the muscles of the eye have also been reported .
The condition is do by agenetic mutationin a gene cry FBN1 , according to GARD . This cistron is responsible for a protein call fibrillin-1 , which helps form elastic fibre that start the tegument , ligaments and stock vessels to debase , GARD says .
Currently , there are no existing treatments that can change by reversal the symptoms of blind drunk tegument syndrome , fit in to GARD . Rather , approaches such as physical therapy are aim at addressing any joint - movement problems hoi polloi with the condition may produce .
In addition , there ’s limited grounds that animmune - arrangement - suppressingdrug called mycophenolate mofetil may improve symptoms , GARD say . Inone report , published in 2016 in the Journal of the American Academy of Dermatology , doctors described two affected role with stiff hide syndrome whose symptom improved after taking the drug for several month and undergoing forcible therapy .
Jaiden ’s parents have created aGoFundMepage to raise money to help pay for his discussion and aesculapian bills .
Originally published onLive scientific discipline .
