Restrictive dermopathy
Restrictive Dermopathy
Restrictive Dermopathy (pronounced: re-stric-tive der-mop-a-thy) is a rare, lethal genetic disorder that affects the skin and connective tissues of the body.
Etymology
The term "Restrictive Dermopathy" is derived from the Latin word 'restrictus', meaning 'confined' or 'limited', and the Greek word 'derma', meaning 'skin', and 'pathos', meaning 'suffering'. Thus, the term literally translates to 'limited skin suffering'.
Definition
Restrictive Dermopathy is a severe genodermatosis characterized by tight, rigid skin, typically evident at birth. The condition is associated with a range of abnormalities including growth retardation, joint contractures, and facial abnormalities.
Symptoms
The primary symptom of Restrictive Dermopathy is the presence of tight, shiny skin that restricts movement. Other symptoms may include micrognathia (small lower jaw), rocker-bottom feet, and arthrogryposis (joint contractures).
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 characteristic features of Restrictive Dermopathy.
Diagnosis
Diagnosis of Restrictive Dermopathy is typically based on the physical features observed at birth. Genetic testing can confirm the diagnosis by identifying mutations in the ZMPSTE24 gene.
Treatment
There is currently no cure for Restrictive Dermopathy. Treatment is supportive and focuses on managing the symptoms and complications of the condition.
Prognosis
The prognosis for individuals with Restrictive Dermopathy is poor, with most infants not surviving beyond the first week of life.
See Also
External links
- Medical encyclopedia article on Restrictive dermopathy
- Wikipedia's article - Restrictive dermopathy
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