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 also may develop inside the body, such as in the mouth or the intestines.
EB comprises four major types, based on different sites of blister formation within the skin structure: epidermolysis bullosa simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler syndrome.
Most types of EB are inherited and usually, symptoms start at birth, or in infancy or early childhood. However, there are people who only develop signs and symptoms in adolescence or early adulthood.
The disorder also has a non-genetic type, called EB acquisita (EBA), which is caused by the immune system wrongly attacking the body’s own tissues.
General epidermolysis bullosa symptoms
Each type of EB is divided into various subtypes, according to severity, and 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
- Blistering inside the mouth and throat
- Fingernails and toenails that become deformed or even lost
- In more severe forms, skin that may get thinner, with scars called atrophic scarring
- Tiny white skin bumps or pimples, known as milia; each individual cyst is called a milium
- Swallowing difficulties, called dysphagia
Immediate medical care should be sought if problems with swallowing or breathing appear or if the blisters look infected, with or without fever or chills. Infected blisters usually are characterized by warm, red, painful and/or swollen skin.
Symptoms of epidermolysis bullosa simplex
Localized EBS is the most common form of EB.
Sometimes blisters develop on other parts of the body than the hands and feet, such as on the buttocks or inner thighs.
Sweating also can worsen the condition. As a result, EBS is often more noticeable after mild or moderate physical activity, or during summer. Notably, however, these blisters usually heal without scarring.
People with EBS may experience skin thickening in the palms of the hands and the soles of the feet.
In generalized intermediate EBS, blisters can form anywhere on the body. Sometimes they can appear inside the nose and throat. Scarring may occur, but this is uncommon.
As for generalized severe EBS, blistering is widespread, with reported cases of more than 200 blisters in a day. This blistering causes skin to be more prone to pain and infections, and affects the child’s normal development through impairments in feeding.
Symptoms of junctional epidermolysis bullosa
JEB generalized intermediate (non-Herlitz) causes widespread blistering of the skin and mucous membranes. Blisters in the scalp also are common and may lead to scarring and hair loss. This is also called cicatricial alopecia.
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.
JEB generalized severe (Herlitz) is the most severe type of JEB, although it is very rare.
This condition causes widespread blistering of the mouth and mucous membranes. Blisters are likely to occur inside the body, including on the vocal cords, esophagus, and upper airways.
Complications of this subtype include anemia, tooth decay, malnutrition and growth difficulties, dehydration, breathing difficulties, and generalized infections.
Children with JEB generalized severe have a very limited survival rate, with most not living more than five years.
Symptoms of dystrophic epidermolysis bullosa
In dominant dystrophic EB, blisters occur at body sites that experience trauma, oftentimes the hands, feet, arms, and legs. Such blistering often results in scarring. Although abnormalities in the mouth may occur, some patients have mild symptoms with the only sign of the disease being misshapen or missing nails.
Recessive, severe generalized dystrophic EB is the most severe type of EB. Blistering is widespread and severe, especially inside the mouth, vocal cords, esophagus, and anus. Blisters may develop into persistent ulcers.
Scalp blistering, scarring, and hair loss can occur in this type of EB. Tooth decay is common.
Children with severe DEB will often have anemia, vision problems, malnutrition, and growth problems.
Skin cancer is likely to develop at repeated scarring sites among people with severe DEB.
Symptoms of Kindler syndrome
Blisters and sensitivity to light may occur in people with Kindler syndrome
Patients with this type of EB usually have altered skin pigmentation and skin atrophy.
Mucous membranes also may be affected, especially in the eyes.
Symptoms of Epidermolysis bullosa acquisita
Non-inflammatory EBA is characterized by skin fragility and tense blisters. Blistering may occur mostly on the hands, knees, knuckles, elbows, and ankles. Lesions may heal with significant scarring and milia.
People with inflammatory EBA may experience widespread blistering. Generalized redness and itching also have been seen. These wounds usually heal with minimal scarring.
Bullous pemphigoid-like (non-classical) EBA can involve widespread tense vesicles and blisters that are not restricted to regions prone to trauma. This condition mainly affects the trunk region and skin folds, and is accompanied by generalized redness, itching, and plaque formation. Healing occurs with minimal scarring and milia.
IgA EBA is characterized by linear IgA deposits (a type of antibody) in the basement membrane — a key interface between the skin layers epidermis and dermis. Mucosal scarring is often intense.
In Brunsting-Perry EBA, blistering is confined to the head and neck, which resembles Brunsting-Perry type mucous membrane pemphigoid disease.
As for mucous membrane EBA, blisters occur in various mucous membranes, such as the mouth, gingiva, esophagus, anus and genital organs It may result in significant scarring and impairment of function.
Last updated: June 9, 2021
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