Stiff Skin Syndrome: A Rare Disease That Hardens The Skin

What Is Stiff Skin Syndrome?

rare skin disorders

Stiff skin syndrome is an incredibly rare cutaneous condition that causes the skin and subcutaneous tissue to thicken until it is a “rock hard” consistency. For this reason, people say that someone with stiff skin syndrome is “turning to stone.” The symptoms of stiff skin syndrome typically appear in infancy or early childhood.

Causes

Stiff skin syndrome is caused by a gene mutation of the FBN1 gene. This leads to an abnormal association between fibrillin and elastin.

Types

There is only one known type of 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

Diagnosis

A primary care physician may be able to diagnose stiff skin syndrome through a thorough physical examination. They may perform a skin biopsy to get a closer look at the skin and look for the characteristics of stiff skin syndrome. They may refer you to a geneticist to run genetic testing to check for a FBN1 gene mutation.

Treatment

There is no cure for stiff skin syndrome, but there are ways to treat the symptoms. Physical therapy and exercise often helps with joint mobility and muscle weakness. Recent studies have shown that therapeutic procedures to block certain antibodies may stop the progression of stiff skin syndrome.

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