Epidermolysis Bullosa

Epidermolysis Bullosa
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Synonyms
Pronounce
Specialty	Dermatology
Symptoms	Blistering of the skin, mucosal lesions
Complications	Infection, skin cancer, malnutrition
Onset	Usually at birth
Duration	Lifelong
Types	Simplex, Junctional, Dystrophic, Kindler syndrome
Causes	Genetic (mutations in genes involved in skin formation)
Risks	N/A
Diagnosis	Skin biopsy, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Wound care, pain management, nutritional support
Medication	Antibiotics, analgesics
Prognosis	Varies by type; can be life-limiting
Frequency	Rare
Deaths	N/A

Epidermolysis Bullosa (EB) is a group of rare genetic disorders that result in fragile skin that blisters and tears from minor friction or trauma. This condition is usually evident at birth and varies widely in severity. The main symptom is extremely fragile skin that blisters and tears easily. There are several major types and numerous subtypes of EB, primarily classified based on the depth of the blistering in the skin layers.

Classification

Epidermolysis Bullosa is classified into four main types based on the location of the tissue separation in the skin:

• Epidermolysis Bullosa Simplex (EBS) - blistering occurs in the epidermis.
• Junctional Epidermolysis Bullosa (JEB) - blistering occurs at the level of the lamina lucida within the basement membrane zone.
• Dystrophic Epidermolysis Bullosa (DEB) - blistering occurs below the basement membrane zone in the upper dermis.
• Kindler Syndrome - blistering can occur at multiple levels of the skin, and is also associated with photosensitivity.

Causes

EB is caused by mutations in various genes responsible for the production of proteins that help form and maintain the structure of the skin. These mutations can be inherited from one or both parents, or they can occur spontaneously.

Symptoms

The primary symptom of EB is skin blistering that occurs in response to minor injuries, heat, or friction. Other symptoms can include:

• Mucosal involvement leading to blistering inside the mouth or esophagus
• Nail dystrophy or loss
• Scarring and milia (small white bumps) formation
• Increased risk of skin infections and skin cancer

Diagnosis

Diagnosis of EB is typically made based on clinical evaluation, family history, and the presence of characteristic skin blistering. Confirmatory tests include:

• Skin biopsy to determine the level of tissue separation
• Genetic testing to identify specific mutations

Treatment

There is no cure for EB, and treatment focuses on managing symptoms and preventing complications. Treatment strategies include:

• Wound care to promote healing and prevent infection
• Pain management
• Nutritional support to address feeding difficulties and prevent malnutrition
• Surveillance for skin cancer in older patients

Prognosis

The prognosis for individuals with EB varies depending on the type and severity of the disease. Some forms of EB may be associated with a normal lifespan, while others can be severely life-limiting.

Epidemiology

Epidermolysis Bullosa is considered a rare disease, with an estimated incidence of 1 in 20,000 live births globally. All ethnicities and genders are equally affected.