What causes Dermatosparaxis?

Cause. Dermatosparaxis EDS (dEDS) is caused by changes ( mutations ) in the ADAMTS2 gene . This gene encodes an enzyme that helps process several types of “procollagen molecules ” (precursors of collagen). Collagen is a protein that provides structure and strength to connective tissues throughout the body.

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What causes Ehlers-Danlos?

What causes Ehlers-Danlos syndrome? A defect in collagen (proteins that add flexibility and strength to connective tissue) causes Ehlers-Danlos syndrome. People with the disorder have a faulty gene that leads to weak collagen or not enough normal collagen in their tissues.

What is EDS in medical terms?

Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in your body.

At what age is Ehlers-Danlos usually diagnosed?

It is usually diagnosed before the age of 2 years. Fragility, bruising and sagging of the skin are severe but, surprisingly, the skin heals well. Like the other rare types, in order to inherit it you need to inherit one faulty gene from EACH of your parents.

What is cardiac-valvular EDS?

Cardiac-valvular Ehlers-Danlos syndrome (cvEDS), a rare type of the disease, is characterized by problems in the heart valves, which accompany the more commonly observed disease symptoms of stretchy skin or overly flexible joints.

What are the specific symptoms of Ehlers-Danlos syndrome?

Main types of Ehlers-Danlos syndromes (EDS)

joint hypermobility.
loose, unstable joints that dislocate easily.
joint pain and clicking joints.
extreme tiredness (fatigue)
skin that bruises easily.
digestive problems, such as heartburn and constipation.
dizziness and an increased heart rate after standing up.

Is EDS life threatening?

Many people with EDS have easily dislocated joints and fragile skin, which is readily damaged. Accidents or injuries may, therefore, be more likely to be life-threatening for these individuals. For those with vascular involvement, the blood vessels are more likely to rupture, with or without cause.

How common is Arthrochalasia EDS?

This form of EDS is very rare with only 27 cases reported in the literature to date. (3-5, 7-17) It is characterized by generalized joint hypermobility with recurrent dislocations of other joints including congenital bilateral hip dislocation, muscular hypotonia and mild dysmorphic features.

Does EDS affect the heart?

Malfunctioning of the part of the nervous system that controls involuntary bodily functions (e.g. breathing, heart rate) is common with hypermobile EDS. Symptoms include fast heart rate coupled with low blood pressure, digestive and bladder problems, and temperature and sweating dysregulation.

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