Restrictive dermopathy

Restrictive Dermopathy is a rare, lethal genetic disorder characterized by tight, rigid skin and associated with abnormalities of the joints and respiratory system. It is caused by mutations in the ZMPSTE24 gene.

Symptoms

The primary symptom of restrictive dermopathy is tight, rigid skin that restricts movement. This can lead to joint contractures and respiratory problems. Other symptoms may include a small mouth, small pinched nose, and eyes that appear to bulge. The skin may also have a shiny, scaly appearance.

Causes

Restrictive dermopathy is caused by mutations in the ZMPSTE24 gene. This gene provides instructions for making an enzyme that is involved in the production of a protein called lamin A. Mutations in the ZMPSTE24 gene disrupt the production of lamin A, leading to the symptoms of restrictive dermopathy.

Diagnosis

Diagnosis of restrictive dermopathy is based on the characteristic physical findings. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for restrictive dermopathy. Treatment is supportive and focuses on managing the symptoms.

Prognosis

The prognosis for individuals with restrictive dermopathy is poor. Most infants with this condition do not survive beyond the first week of life.

See also

• Genetic disorder
• ZMPSTE24
• Lamin A

References

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