What cells are affected by epidermolysis bullosa?
What cells are affected by epidermolysis bullosa?
Epidermolysis bullosa simplex (EBS) is usually dominantly inherited, and involves disorders of the genes for Keratins 5 and 14 and plectin. Recently, several suprabasal types of EBS have been described as well. Blistering occurs within the uppermost layer of the skin, the epidermis.
What protein is affected by epidermolysis bullosa?
Dystrophic EB is caused by a mutation in the collagen 7 gene and can be dominant or recessive. The collagen gene codes for the collagen 7 protein that anchors the deeper layer of skin (dermis) to the superficial layer of skin (epidermis).
What causes EB blistering skin disease?
Causes of epidermolysis bullosa EB is caused by a faulty gene (gene mutation) that makes skin more fragile. A child with EB might have inherited the faulty gene from a parent who also has EB. Or they might have inherited the faulty gene from both parents who are just “carriers” but don’t have EB themselves.
What causes Butterfly disease?
| Epidermolysis bullosa | |
|---|---|
| Duration | Often lifelong |
| Types | Epidermolysis bullosa simplex, dystrophic epidermolysis bullosa, junctional epidermolysis bullosa, Kindler syndrome |
| Causes | Genetic |
| Diagnostic method | Skin biopsy, genetic testing |
What gene mutation causes epidermolysis bullosa simplex?
The four major types of epidermolysis bullosa simplex can result from mutations in either the KRT5 or KRT14 gene. These genes provide instructions for making proteins called keratin 5 and keratin 14.
How does epidermolysis bullosa affect the integumentary system?
Because of this defect, the layers of skin (the epidermis and dermis) do not bind together as they normally should. This results in skin that is fragile and blisters and tears easily. EB can be inherited, meaning that the defective gene can be passed down through family members.
Is dystrophic epidermolysis bullosa dominant or recessive?
Recessive dystrophic epidermolysis bullosa (RDEB-sev gen and RDEB-gen and -loc) is inherited in an autosomal recessive pattern . Autosomal recessive inheritance means that both copies of the COL7A1 gene in each cell have mutations.
What is epidermolysis bullosa recessive dystrophic?
Recessive Dystrophic Epidermolysis Bullosa is an incurable, often fatal skin blistering condition caused by a lack of collagen protein in the skin. This makes the skin incredibly fragile, leading to blistering or skin loss at the slightest friction or knock. It is progressive and incredibly painful.
What causes dystrophic epidermolysis bullosa?
Mutations in the COL7A1 gene cause all forms of dystrophic epidermolysis bullosa. This gene provides instructions for making a protein that forms the pieces (subunits) of a larger protein called type VII collagen.
Can epidermolysis bullosa affect hands?
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.
What is the prevalence of epidermolysis bullosa in the US?
Considered together, the prevalence of recessive and dominant dystrophic epidermolysis bullosa is estimated to be 3.3 per million people. Mutations in the COL7A1 gene cause all forms of dystrophic epidermolysis bullosa.
What is epidermolysis bullosa acquisita (EB)?
Epidermolysis bullosa acquisita is different from other forms of EB. It is not caused by a straightforward genetic mutation. Instead, it is thought to be caused by a form of autoimmune disease. Unlike the other forms of EB, symptoms often don’t appear until people are in their 30s or 40s.
