Stiff skin syndrome
Stiff Skin Syndrome
Stiff skin syndrome (pronunciation: stɪf skiːn sɪndroʊm) is a rare genetic disorder characterized by hard, thick skin that can restrict movement. The condition is often present from birth or early childhood.
Etymology
The term "Stiff skin syndrome" is derived from the characteristic symptom of the condition, which is the hardening or stiffening of the skin.
Symptoms
The primary symptom of stiff skin syndrome is hard, thick skin that can restrict movement. The skin may also have a waxy or shiny appearance. Other symptoms can include joint contractures, muscle weakness, and in severe cases, respiratory problems.
Causes
Stiff skin syndrome is caused by mutations in the FBN1 gene. This gene provides instructions for producing a protein called fibrillin-1. Fibrillin-1 is an important component of microfibrils, which provide strength and flexibility to connective tissue.
Diagnosis
Diagnosis of stiff skin syndrome is based on the clinical symptoms, a detailed patient history, and specialized tests. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for stiff skin syndrome. Treatment is focused on managing symptoms and improving quality of life. This can include physical therapy, medications to manage pain, and in some cases, surgery to improve mobility.
Related Terms
External links
- Medical encyclopedia article on Stiff skin syndrome
- Wikipedia's article - Stiff skin syndrome
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