Epidermolysis bullosa (EB) is a rare disease in which the skin blisters. These blisters usually occur as a result of minor injuries, heat, or rubbing. In more severe cases blisters may also develop inside the body, such as inside the mouth or the intestines.
Most types of EB are inherited and usually, symptoms start in infancy or early childhood, however, there are people who only develop signs and symptoms in adolescence or early adulthood.
General epidermolysis bullosa symptoms
There are four major types of EB , based on different sites of blister formation within the skin structure:
- Epidermolysis bullosa simplex (EBS), with blister formation on the epidermis or uppermost layer of the skin
- Junctional epidermolysis bullosa (JEB), with blister formation on the lamina lucida within the basement membrane zone. The basement membrane zone is what separates the epidermis from the dermis.
- Dystrophic epidermolysis bullosa (DEB), with blister formation on the lamina densa and upper dermis. The dermis is the middle layer of the skin.
- Kindler syndrome, where blisters appear on multiple levels within and/or beneath the basement membrane zone.
Each of these four types is divided into various subtypes, according to severity ranging from mild to severe.
Some of the general EB signs and symptoms include
- Blisters filled with fluid, especially on the hands and feet due to friction
- Fingernails and toenails that become deformed or even lost
- Blisters inside the body, including vocal cords, esophagus, and upper airways
- Skin thickening in the palms of the hands and the soles of the feet
- Scalp blistering, scarring, and hair loss (also called scarring or cicatricial alopecia)
- Skin that gets thinner with scars (atrophic scarring)
- Tiny white skin bumps or pimples (milia). Milia is a small white bump that appears under the surface of the skin that contains keratin, one of the skin proteins.
- Dental problems, such as tooth decay
- Swallowing difficulties (called dysphagia).
Immediate medical care should be sought if problems with swallowing or breathing appear or if the blisters look infected (warm, red, painful and/or swollen skin) with or without fever or chills.
Symptoms of epidermolysis bullosa simplex (EBS)
This is the most common form of EBS.
It is characterized by painful blisters on the palms of the hands and soles of the feet that develop after mild or moderate physical activity.
Sometimes blisters develop on other parts of the body such as the buttocks or inner thighs.
Sweating can also worsen the condition, therefore it is during summer that EBS is more noticeable – these blisters usually heal without scarring.
Blisters can form anywhere on the body due to friction or trauma, with symptoms more severe during the summer.
Sometimes blisters can appear inside the nose, mouth, and throat.
Milia and scarring may occur, but this is uncommon.
Symptoms of generalized intermediate EBS usually begin during birth or infancy.
There is widespread blistering, with cases of the development of more than 200 blisters in a day. This blistering causes skin to be more prone to pain and infections and affect the children’s normal development.
Eating and speaking may become difficult as blisters may develop inside the throat and mouth.
Symptoms of junctional epidermolysis bullosa (JEB)
Non-Herlitz JEB causes widespread blistering of the skin and mucous membranes. Blisters in the scalp are also common and may lead to scarring and hair loss.
There may be tooth decay due to abnormal formation of tooth enamel.
Some people with non-Herlitz JEB may develop urinary tract problems.
Adults with this condition are more prone to developing skin cancer.
It is the most severe type of JEB, although it is very rare.
This condition causes widespread blistering of the mouth and mucous membranes.
Complications of this condition include anemia, tooth decay, malnutrition and growth difficulties, dehydrations, breathing difficulties, and generalized infections.
Children with Herlitz JEB have a very limited survival rate, with most not surviving more than five years.
Symptoms of dystrophic epidermolysis bullosa (DEB)
Blister occurs at places on the body that experience trauma, often the hands, feet, arms, and legs, resulting in scarring. Milia form at the site of the blisters.
The nails become thickened and acquire an abnormal shape. They may even be lost altogether. The mouth is usually affected too, making eating and cleaning teeth painful.
DEB usually develops at birth or shortly afterward, but may also only occur in late childhood.
This is the most severe type of DEB. There is a widespread and severe skin blistering that often leaves areas covered with persistent ulcers.
Repeated scarring can result in the loss of nails of the hands and feet.
The mucous membranes are also affected, especially inside the mouth, esophagus, and anus.
Tooth decay and repeated scarring in and around the mouth are also common, causing speaking, chewing, and swallowing problems.
Children with severe DEB will often have anemia, vision problems, malnutrition, and growth problems.
Symptoms are usually present at birth or develop very shortly afterward.
People with severe DEB are at risk of developing skin cancer at the site of repeated scarring.
Symptoms of Kindler syndrome
Blisters and sensitivity to light begin in infancy or early childhood, with trauma related to blistering on hands and feet.
People with Kindler syndrome usually have an altered skin pigmentation and skin atrophy.
Mucous membranes may also be affected, especially in the eyes and mouth.
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