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Stiff Skin Syndrome: A Rare Disease That Hardens The Skin

Stiff Skin Syndrome: A Rare Disease That Hardens The Skin
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Stiff Skin Syndrome

hardened skin

Stiff skin syndrome is a very rare condition of the skin that causes the subcutaneous tissue to thicken until it feels hard as a rock. This is why patients with stiff skin syndrome are sometimes called “stone people” or said to be “turning to stone.” Stiff skin syndrome usually appears in infancy or early childhood.

What Causes Stiff Skin Syndrome?

A gene mutation in the FBN1 gene leads to an abnormal interaction between fibrillin and elastin, leading to stiff skin syndrome.

Types of Stiff Skin Syndrome

There is only one known type of stiff skin syndrome.

Stiff Skin Syndrome Symptoms

  • Hard, thickened skin particularly on the thighs, shoulders and buttocks
  • Excessive hair growth
  • Loss of body fat
  • Muscle weakness
  • Limited joint mobility
  • Lack of skin elasticity
  • Scoliosis
  • Delayed growth as a child
  • Short stature
  • Pulmonary changes or difficulties
  • Respiratory issues
  • Narrow chest cavity
  • Walking on tiptoes

stiff skin syndrome

Diagnosing Stiff Skin Syndrome

Your primary care physician can diagnose stiff skin syndrome through a physical examination and skin biopsy. They may also refer you to a dermatologist (skin doctor) and a geneticist to check for an FBN1 gene mutation.

Treating Stiff Skin Syndrome

There is no cure for stiff skin syndrome, so treatment revolves around managing symptoms. Physical therapy may help with joint mobility and muscle weakness. Therapeutic procedures that block certain antibodies may stop further progression of the disease.

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