Epidermolysis Bullosa
Also known as: EB, Bullous Dermatosis, Mechanobullous Diseases
Epidermolysis Bullosa (EB) is a group of rare genetic skin disorders characterized by extreme skin fragility and blistering. Blisters and skin erosions occur in response to minor trauma or friction. The severity of EB varies widely, ranging from mild blistering to severe, life-threatening complications.
Imagine your skin is like a delicate sticker. For kids with Epidermolysis Bullosa (EB), their skin is so fragile that even a little touch can cause it to tear and form blisters, like when you peel a sticker too hard. They need special care to protect their skin.
Signs & Symptoms
- Skin blistering (spontaneous or trauma-induced)
- Skin erosions
- Scarring
- Milia (small white bumps)
- Nail dystrophy or loss
- Mucous membrane involvement (mouth, esophagus, eyes)
- Hair loss (scarring alopecia)
- Joint contractures
- Anemia
- Growth retardation
- Increased risk of skin cancer (squamous cell carcinoma)
Treatment Options
Wound care
SUPPORTIVEPain management
MODERATELY EFFECTIVENutritional support
SUPPORTIVEInfection control
MODERATELY EFFECTIVEPhysical therapy
SUPPORTIVEGene therapy
EXPERIMENTALFilsuvez (birch bark extract)
MODERATELY EFFECTIVE Approved 2024Diagnosis
- Clinical examination
- Skin biopsy with immunofluorescence mapping
- Transmission electron microscopy
- Genetic testing
History
The first clinical descriptions of Epidermolysis Bullosa date back to the late 19th century. Herlitz described the severe, lethal form of EB in 1935. The genetic basis of EB began to be elucidated in the late 20th century with the identification of mutations in genes encoding structural proteins of the skin.
Recent Breakthroughs
Topical Gene Therapy Shows Promise in EB
A clinical trial demonstrated that topical gene therapy using a modified herpes simplex virus to deliver the COL7A1 gene improved wound healing in patients with recessive dystrophic EB.
FDA Approves Filsuvez for Wound Healing in EB
The FDA approved Filsuvez, a birch bark extract ointment, for the treatment of partial thickness wounds associated with dystrophic and junctional epidermolysis bullosa (EB) in patients 6 months of age and older.