Epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS) is a group of inherited skin fragility disorders characterized by blistering of the skin and, in some subtypes, mucous membranes following minor mechanical trauma or friction. It is the most common major type of epidermolysis bullosa. In EBS, the blistering occurs within the basal layer of the epidermis (the outermost layer of skin), distinguishing it from other forms of epidermolysis bullosa where separation occurs at deeper levels. EBS is caused by mutations in genes encoding structural proteins of the basal keratinocytes, most commonly KRT5 (keratin 5) and KRT14 (keratin 14), though mutations in other genes such as PLEC (plectin), EXPH5, CD151, and KLHL24 can also be responsible for specific subtypes. Several clinical subtypes of EBS exist, ranging from mild to severe. The localized form (formerly known as Weber-Cockayne type) is the mildest and most common, with blistering primarily affecting the hands and feet, often worsening in warm weather or with increased physical activity. The generalized intermediate form (formerly Köbner type) presents with more widespread blistering. The severe generalized form (formerly Dowling-Meara type) is the most serious, featuring grouped herpetiform blisters that can be present at birth, along with potential involvement of the oral mucosa, nail dystrophy, and palmoplantar keratoderma. Some patients may also develop milia (small white cysts) at sites of healed blisters. There is currently no cure for epidermolysis bullosa simplex. Treatment is supportive and focuses on prevention of blister formation by minimizing skin trauma, careful wound care to prevent secondary infection, pain management, and maintaining skin integrity. Protective padding, appropriate footwear, and avoidance of overheating are important preventive measures. Blisters may be lanced with a sterile needle to relieve pressure while leaving the blister roof intact to serve as a natural wound dressing. Ongoing research into gene therapy, protein replacement therapy, and other molecular approaches offers hope for future targeted treatments. Genetic counseling is recommended for affected individuals and their families.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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