A Uncommon Situation Is Inflicting a Boy's Pores and skin to Flip to 'Stone.' What Is Stiff Pores and skin Syndrome?

A Colorado boy has an especially uncommon situation that's inflicting his pores and skin to harden "like stone," his dad and mom say.

The 12-year-old boy, Jaiden Rogers, has stiff pores and skin syndrome, and his dad and mom are hoping to cease the unfold of the illness earlier than he "turns into entombed inside himself," Individuals journal reported Wednesday (July 18).

Jaiden was identified with the situation in January 2013, when his father observed a tough lump on the boy's proper thigh, Fox Information reported right this moment (July 20). Since then, the painful illness has unfold to his hips, abdomen and again. However because it spreads to his chest space, it might trigger respiratory issues, in response to Individuals. [27 Oddest Medical Cases]

However what’s stiff pores and skin syndrome?

Stiff pores and skin syndrome causes an individual's pores and skin to harden and thicken throughout your complete physique, in response to the Genetic and Uncommon Illnesses Info Heart (GARD). This thickening could make it troublesome for an individual to maneuver his or her joints, and may result in joints turning into caught in a bent place. This sometimes impacts the bigger joints within the physique — such because the shoulders, elbows and knees — although some folks additionally might have hassle bending their fingers, GARD says. The illness is progressive, which means it will get worse over time.

Stiff pores and skin syndrome might also have an effect on an individual's respiratory, in response to GARD.

Different signs can embrace extreme hair development, lack of physique fats, scoliosis, muscle weak spot, gradual development and quick stature, GARD says. Issues with the muscle tissue of the attention have additionally been reported.

The situation is brought on by a genetic mutation in a gene referred to as FBN1, in response to GARD. This gene is accountable for a protein referred to as fibrillin-1, which helps kind elastic fibers that allow the pores and skin, ligaments and blood vessels to stretch, GARD says.

At present, there are not any present remedies that may reverse the signs of stiff pores and skin syndrome, in response to GARD. Reasonably, approaches similar to bodily remedy are aimed toward addressing any joint-movement issues folks with the situation might develop.

As well as, there's restricted proof that an immune-system-suppressing drug referred to as mycophenolate mofetil might enhance signs, GARD says. In a single report, revealed in 2016 within the Journal of the American Academy of Dermatology, medical doctors described two sufferers with stiff pores and skin syndrome whose signs improved after taking the drug for a number of months and present process bodily remedy.

Jaiden's dad and mom have created a GoFundMe web page to boost cash to assist pay for his remedy and medical payments.

Initially revealed on Micronis.

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