What Is Epidermolysis Bullosa or "EB"?
Epidermolysis Bullosa Simplex (EBS)
This form of EB primarily affects the top layer of skin (the epidermis). It is the mildest form and is characterized by blistering and fragility of the skin, often causing mild to moderate blistering, particularly on the hands and feet.
Dominent Dystrophic Epidermolysis Bullosa (DDEB):
Dominant Dystrophic Epidermolysis Bullosa (DDEB) is a subtype of Dystrophic Epidermolysis Bullosa (DEB), which is a rare genetic disorder characterized by extreme skin fragility, causing blistering and skin erosion in response to minor friction or trauma.
DDEB is caused by mutations in the COL7A1 gene, leading to the production of abnormal type VII collagen, an essential protein that helps anchor the layers of skin together. In this subtype, the mutations occur in one allele of the gene, meaning that one copy of the gene is affected, resulting in a milder form of DEB compared to Recessive Dystrophic Epidermolysis Bullosa (RDEB), where both copies of the gene are affected.
Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a severe subtype of Dystrophic Epidermolysis Bullosa (DEB), a rare genetic disorder characterized by extreme skin fragility, leading to blistering, skin erosion, and scarring in response to minor friction or trauma.
In RDEB, mutations occur in both copies of the COL7A1 gene, which encodes the production of type VII collagen, a protein crucial for anchoring the layers of the skin together. Without functional type VII collagen, the skin layers fail to properly adhere, resulting in severe blistering, open wounds, scarring, and skin deformities.
Junctional Epidermolysis Bullosa (JEB)
Junctional Epidermolysis Bullosa (JEB) is a severe and rare subtype of Epidermolysis Bullosa (EB), characterized by extreme skin fragility resulting in blistering and skin erosion. JEB affects the "junction" between the epidermis and the dermis, specifically involving genetic mutations that impair the production of proteins critical for anchoring these layers together.
This form of EB presents at birth or early infancy and manifests with widespread blistering and erosions on the skin and mucous membranes, impacting various bodily systems. Individuals with JEB often experience difficulties with feeding, respiratory complications due to blistering in the respiratory tract, and an increased risk of infections.
Epidermolysis Bullosa Simplex (EBS)
This form of EB primarily affects the top layer of skin (the epidermis). It is the mildest form and is characterized by blistering and fragility of the skin, often causing mild to moderate blistering, particularly on the hands and feet.
Dominent Dystrophic Epidermolysis Bullosa (DDEB)
Dominant Dystrophic Epidermolysis Bullosa (DDEB) is a subtype of Dystrophic Epidermolysis Bullosa (DEB), which is a rare genetic disorder characterized by extreme skin fragility, causing blistering and skin erosion in response to minor friction or trauma.
DDEB is caused by mutations in the COL7A1 gene, leading to the production of abnormal type VII collagen, an essential protein that helps anchor the layers of skin together. In this subtype, the mutations occur in one allele of the gene, meaning that one copy of the gene is affected, resulting in a milder form of DEB compared to Recessive Dystrophic Epidermolysis Bullosa (RDEB), where both copies of the gene are affected.
Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a severe subtype of Dystrophic Epidermolysis Bullosa (DEB), a rare genetic disorder characterized by extreme skin fragility, leading to blistering, skin erosion, and scarring in response to minor friction or trauma.
In RDEB, mutations occur in both copies of the COL7A1 gene, which encodes the production of type VII collagen, a protein crucial for anchoring the layers of the skin together. Without functional type VII collagen, the skin layers fail to properly adhere, resulting in severe blistering, open wounds, scarring, and skin deformities.
Junctional Epidermolysis Bullosa (JEB)
Junctional Epidermolysis Bullosa (JEB) is a severe and rare subtype of Epidermolysis Bullosa (EB), characterized by extreme skin fragility resulting in blistering and skin erosion. JEB affects the "junction" between the epidermis and the dermis, specifically involving genetic mutations that impair the production of proteins critical for anchoring these layers together.
This form of EB presents at birth or early infancy and manifests with widespread blistering and erosions on the skin and mucous membranes, impacting various bodily systems. Individuals with JEB often experience difficulties with feeding, respiratory complications due to blistering in the respiratory tract, and an increased risk of infections.