What causes Dermatosparaxis?
The dermatosparaxis type is caused by mutations in the ADAMTS2 gene. PLOD1 or FKBP14 gene mutations result in the kyphoscoliotic type. Other rare forms of Ehlers-Danlos syndrome result from mutations in other genes.
What is meant by Dermatosparaxis?
Definition. Dermatosparaxis (meaning ‘tearing of skin’) is an autosomal recessive disorder of connective tissue resulting from deficiency of procollagen peptidase, an enzyme that aids in the processing of type I procollagen.
What is Ehlers-Danlos syndrome Dermatosparaxis type?
Dermatosparaxis Ehlers-Danlos syndrome (dEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias; and mild to severe joint hypermobility.
Is there a test for Ehlers-Danlos?
Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems. For hypermobile Ehlers-Danlos syndrome, the most common form, there is no genetic testing available.
How do you know if you have EDS?
Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make a diagnosis. Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems.
How did you know you had Ehlers-Danlos syndrome?
loose, unstable joints that dislocate easily. weak muscle tone from childhood (hypotonia) – this may cause a delay in sitting and walking, or difficulty walking if symptoms get worse. fragile eyes that can easily be damaged. soft, velvety skin that is stretchy, bruises easily and scars.
Does Ehlers-Danlos show up in blood work?
Is Ehlers-Danlos life threatening?
Vascular EDS (vEDS) is a rare type of EDS and is often considered to be the most serious. It affects the blood vessels and internal organs, which can cause them to split open and lead to life-threatening bleeding.
What are the symptoms of dermatosparaxis EDS (DEDs)?
While the symptoms of the different types of EDS often overlap, dermatosparaxis EDS (dEDS) is mainly characterized by soft doughy skin that is very fragile, as well as hernias and joint hypermobility (when joints can move farther than they should). dEDS is extremely rare, with only a few cases having been reported in the literature.
Is dermatosparaxis EDS (DEDs) hereditary?
Dermatosparaxis EDS (dEDS) is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers.
What is the gene associated with dermatosparaxis?
The gene associated with dermatosparaxis EDS is called ADAMTS2. Characteristic findings on skin biopsy can also be used to make the diagnosis. Genes are the instructions that help us grow, develop and function. Our genes come in pairs, one from our mother and one from our father.