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Skin Conditions

Ehler-danlos syndrome What is the cause of Ehler-danlos syndrome (cutaneous asthenia, dermatosparaxis)??

User Naveejr
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Final answer:

Ehlers-Danlos syndrome is caused by mutations affecting type-III collagen, leading to structural problems in the skin, joints, and other tissues. It is a genetic disorder with various inheritance patterns, including autosomal dominant and recessive.

Step-by-step explanation:

What is the Cause of Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is a group of genetic disorders of the connective tissues, primarily affecting the collagen structure within the extracellular matrix. At the core of EDS is a deficiency of type-III collagen, caused by mutations in the genes that encode the collagen structure or related enzymes, particularly hydroxylase. These mutations result in the improper formation and degradation of collagen, resulting in tissue and organ abnormalities, which are manifested through hypermobile joints, elastic skin, and fragile tissue structures. Additionally, different types of EDS are classified according to the specific parts of the body they affect, such as the skin, heart valves, arterial walls, and organ walls. Due to its genetic basis, EDS is hereditary and can follow different patterns of inheritance, including autosomal dominant or autosomal recessive.

User Roskoto
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