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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
Diagnosis of restrictive dermopathy is based on the characteristic physical findings. Genetic testing can confirm the diagnosis.
Treatment[edit | edit source]
There is currently no cure for restrictive dermopathy. Treatment is supportive and focuses on managing the symptoms.
Prognosis[edit | edit source]
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[edit | edit source]
References[edit | edit source]
Restrictive dermopathy Resources | ||
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Contributors: Prab R. Tumpati, MD