What type of tissue is affected by epidermolysis bullosa?

What type of tissue is affected by epidermolysis bullosa?

What is epidermolysis bullosa (EB)? Epidermolysis bullosa (EB) is a group of connective tissue disorders that causes skin to be fragile and blister and tear easily. Blisters and sores occur when clothing rubs on skin or when the skin is bumped.

What is dystrophic epidermolysis bullosa?

Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB).

What happens in the body to cause epidermolysis bullosa?

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 type of mutation is 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.

What layer of the skin does DEB affect?

DEB can be moderate or severe depending on the subtype. It affects the lower layer of the skin – the dermis, which is where the blistering occurs.

Which is the most likely explanation for the defect in dystrophic epidermolysis bullosa in which the skin blisters with any touch?

Which is the most likely explanation for the defect in dystrophic epidermolysis bullosa, in which the skin blisters with any touch? collagen fibrils that attach the epidermis to the dermis break down.

What does type 7 collagen do?

Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, tendons, and ligaments, throughout the body. In particular, type VII collagen plays an essential role in strengthening and stabilizing the skin.

How does EB affect internal organs?

Junctional Epidermolysis Bullosa In older children and adults, there can be blisters in the lining of the mouth and digestive tract, making it hard to eat and digest food. Children are more likely to have growth and malnutrition issues. Severe cases may be fatal in infancy.

How are keratins involved in EB?

1 Increased Keratin Phosphorylation Is Related to Keratin Network Dynamics in Skin Disease. EBS, an autosomal dominant skin disorder, manifests itself in the form of trauma-induced epidermal basal cell lysis leading to skin blisters (Coulombe et al., 1991b).

What causes junctional epidermolysis bullosa?

Causes. Junctional epidermolysis bullosa most commonly results from mutations in the LAMA3, LAMB3, LAMC2, and COL17A1 genes. Mutations in each of these genes can cause JEB generalized severe or JEB generalized intermediate.

What causes butterfly skin?

Epidermolysis bullosa is a rare genetic condition that makes skin so fragile that it can tear or blister at the slightest touch. Children born with it are often called “Butterfly Children” because their skin seems as fragile as a butterfly wing. Mild forms may get better with time.

What tissue forms most of the dermis?

fibrous connective tissue
The dermis consists of dense, fibrous connective tissue whose predominant connective tissue component is collagen. The texture of collagen fibers serves as the basis for recognizing two layers of dermis.