What is epidermolysis bullosa Dystrophica?

Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. “Butterfly child” is the colloquial name for a child born with the disease, as their skin is seen to be as delicate and fragile as the wings of a butterfly.

How common is Rdeb?

The prevalence of all RDEB sub-types, with the exclusion of RDEB-sev gen, has been estimated at 1/2,040,816 in the United States. Under the term RDEB-other are grouped a spectrum of phenotypes , showing highly variable severity of the cutaneous and mucosal involvement.

Can epidermolysis bullosa be cured?

There’s currently no cure for epidermolysis bullosa (EB), but treatment can help ease and control symptoms. Treatment also aims to: avoid skin damage. improve quality of life.

Can EB be detected in the womb?

In some cases it’s possible to test an unborn baby for EB after the 11th week of pregnancy. Prenatal tests include amniocentesis and chorionic villus sampling.

Can you grow out of epidermolysis bullosa?

Most types of epidermolysis bullosa are inherited. The condition usually shows up in infancy or early childhood. Some people don’t develop signs and symptoms until adolescence or early adulthood. Epidermolysis bullosa has no cure, though mild forms may improve with age.

How is epidermolysis bullosa passed down?

Epidermolysis bullosa is usually inherited. The disease gene may be passed on from one parent who has the disease (autosomal dominant inheritance). Or it may be passed on from both parents (autosomal recessive inheritance) or arise as a new mutation in the affected person that can be passed on.

How can epidermolysis bullosa be prevented?

Living with epidermolysis bullosa

1. Keep your skin cool.
2. Wear loose-fitting, soft clothing to avoid rubbing against the skin.
3. Keep rooms at a cool, even temperature.
4. Apply lotion to the skin to reduce rubbing and keep the skin moist.
5. Use sheepskin on car seats and other hard surfaces.

What causes dystrophic epidermolysis bullosa ( DEB )?

Dystrophic epidermolysis bullosa (DEB) is an inherited variant affecting the skin and other organs. DEB is caused by genetic defects (or mutations) within the human COL7A1 gene encoding the protein type VII collagen (collagen VII).

What are the symptoms of epidermolysis bullosa ( EB )?

Epidermolysis bullosa (EB) is a group of rare genetic conditions that result in easy blistering of the skin and mucous membranes. Blisters occur with minor trauma or friction and are painful. Its severity can range from mild to fatal. [7]

Can you get pseudosyndactyly from dominant dystrophic EB?

An individual with dominant Dystrophic EB generally experiences mild to moderate blistering of the skin, but only a small amount of blistering of the mouth, esophagus, and GI tract. This type rarely causes pseudosyndactyly, a deformity of the hands or feet caused by the fusion of the fingers or toes.

Can a recessive form of dystrophic EB cause blistering?

Both dominant and recessive forms of Dystrophic EB cause scarring. An individual with dominant Dystrophic EB generally experiences mild to moderate blistering of the skin, but only a small amount of blistering of the mouth, esophagus, and GI tract.