What is DEB disease?
Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder. The skin of those who have DEB is more fragile than normal. Minor injury causes blisters which often leave scars when they heal.
What causes DEB?
Causes. DEB is caused by genetic defects (or mutations) within the human COL7A1 gene encoding the protein type VII collagen (collagen VII). DEB-causing mutations can be either dominant or recessive. Most families with family members with this condition have distinct mutations.
How is DEB diagnosed?
Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam. Background: Epidermolysis bullosa (EB) is a disorder characterized by the appearance of blisters, erosions and wounds in response to minimal trauma.
Is there a cure for EB skin disease?
There’s currently no cure for EB, so treatment aims to relieve symptoms and prevent complications developing, such as infection. A team of medical specialists will help you decide what treatment is best for your child and offer advice about living with the condition.
What is dystrophic epidermolysis bullosa (DEB)?
This site is in-development and may not reflect the final version. Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms can vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows.
Is ddeb autosomal dominant or recessive?
DDEB has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. About 70 percent of all people with DDEB have inherited an altered COL7A1 gene from an affected parent.
How is Duchenne muscular dystrophy (Deb) diagnosed?
Diagnosis/testing: The diagnosis of DEB is established in a proband with characteristic clinical findings and the identification of biallelic pathogenic variants (RDEB) or a heterozygous pathogenic variant (DDEB) in COL7A1by molecular genetic testing. The only gene in which pathogenic variants are known to cause DEB is COL7A1.
What are the signs and symptoms of ddeb?
Other signs and symptoms of DDEB may include dystrophic or absent nails, constipation, dental caries and swallowing problems. It is caused by mutations in the COL7A1 gene and is inherited in an autosomal dominant manner.