Epidermolysis Bullosa – Causes and Symptoms of Epidermolysis Bullosa

Epidermolysis is a group of skin disorders that causes blistering and breakdown of the skin and mucous membranes. Blisters are formed in response to heat, or friction from scratching or rubbing and minor injury. It is an inherited disorder.

There are many different types of Epidermolysis bullosa and the three main types are dystrophic EB, junctional EB and simplex EB.The disorder can be seen in 9 out of every 1 million people. This genetical disorder affects both men and women of any race.

Epidermolysis bullosa Causes
Researchers identified that more than 10 genes are responsible for skin formation. If any of the gene become defective, it may lead to a type of Epidermolysis bullosa. A sudden change in the gene during the formation of sperm or an egg cell is also a cause for this disorder.

Skin consists of an epidermal layer, dermal layer and basement membrane zone, where two layers meet. Blisters develop depending on the type of Epidermolysis bullosa.

Following are the types of Epidermolysis bullosa and their causes
Dystrophic EB: This is a mild to severe type, usually affects at birth or early childhood. In this type, faulty genes are involved in production of collagen. Collagen is a fiber protein that attaches epidermis to dermis. As it is produced by faulty genes, fibers either become non-functional or missing.

Junctional EB: This is severe type of disorder, usually affects at birth. Faulty genes are involved in the formation of hemidesmosomes, thread-like fibers that attach epidermis to basement membrane. As a cause, blistering and tissue separation occurs in the basement membrane.

Simplex EB: This is a common and mildest form, usually begins at birth or in early infant stage. Faulty genes are involved in the production of keratin. Keratin is a fiber protein in the outer layer of the skin. As a cause, the skin splits in the epidermal layer producing blisters.

Symptoms of Epidermolysis bullosa
The following are the signs and symptoms of Epidermolysis bullosa

• Skin thickening on palms and soles of feet (hyperkeratosis)
• Blister formation on the skin depending on the type
• Internal blister formation, including throat, oesophagus, upper airtract, stomach, intestine and urinary tract
• Loss or deformity of fingernails and toenails
• White, tiny pimples or skin bumps
• Blister formation on the scalp and hairloss
• Difficulty in swallowing
• Excessive sweating
• Dental abnormalities such as tooth decay from poor enamel formation

The affected person may also develop the following signs of infection around the blisters

• Oozing of pus
• Redness, pain or heat
• A red line or streak under the affected skin
• Fever or chills
• A wound that does not heal
• Breathing and swallowing problems

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