Restrictive dermopathy

Restrictive dermopathy
	File:Autosomal recessive - en.svg
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

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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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.

References[edit]

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Restrictive dermopathy
File:Autosomal recessive - en.svg
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