Restrictive dermopathy: Difference between revisions
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{{Infobox medical condition | |||
| name = Restrictive dermopathy | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Restrictive dermopathy is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = RD | |||
| field = [[Dermatology]], [[Genetics]] | |||
| symptoms = [[Tight skin]], [[joint contractures]], [[pulmonary hypoplasia]], [[dysmorphic features]] | |||
| complications = [[Respiratory failure]], [[death]] | |||
| onset = [[Prenatal]] | |||
| duration = [[Lifelong]] | |||
| causes = Mutations in [[LMNA]] or [[ZMPSTE24]] genes | |||
| risks = [[Consanguinity]] | |||
| diagnosis = [[Genetic testing]], [[clinical examination]] | |||
| differential = [[Hutchinson-Gilford progeria syndrome]], [[mandibuloacral dysplasia]] | |||
| treatment = Supportive care | |||
| prognosis = Poor, often [[lethal]] in the [[neonatal period]] | |||
| frequency = Very rare | |||
}} | |||
'''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. | '''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 == | == 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. | 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 == | == 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. | 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 == | ||
Diagnosis of restrictive dermopathy is based on the characteristic physical findings. Genetic testing can confirm the diagnosis. | Diagnosis of restrictive dermopathy is based on the characteristic physical findings. Genetic testing can confirm the diagnosis. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for restrictive dermopathy. Treatment is supportive and focuses on managing the symptoms. | There is currently no cure for restrictive dermopathy. Treatment is supportive and focuses on managing the symptoms. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with restrictive dermopathy is poor. Most infants with this condition do not survive beyond the first week of life. | 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 == | == See also == | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[ZMPSTE24]] | * [[ZMPSTE24]] | ||
* [[Lamin A]] | * [[Lamin A]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Skin conditions]] | [[Category:Skin conditions]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 22:32, 6 April 2025
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| Restrictive dermopathy | |
|---|---|
| |
| Synonyms | RD |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Tight skin, joint contractures, pulmonary hypoplasia, dysmorphic features |
| Complications | Respiratory failure, death |
| Onset | Prenatal |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in LMNA or ZMPSTE24 genes |
| Risks | Consanguinity |
| Diagnosis | Genetic testing, clinical examination |
| Differential diagnosis | Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia |
| Prevention | N/A |
| Treatment | Supportive care |
| Medication | N/A |
| Prognosis | Poor, often lethal in the neonatal period |
| Frequency | Very rare |
| Deaths | N/A |
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]
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]
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]
Diagnosis of restrictive dermopathy is based on the characteristic physical findings. Genetic testing can confirm the diagnosis.
Treatment[edit]
There is currently no cure for restrictive dermopathy. Treatment is supportive and focuses on managing the symptoms.
Prognosis[edit]
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]
References[edit]
<references />
