Epidermolysis Bullosa ICD-10: Q81.9

Genetic skin disorder

Often searched as: skin that blisters easily, fragile skin condition, blisters from touching skin, skin peeling genetic disease, baby skin blistering, blisters hands and feet, rare skin disorder, butterfly children disease…

Clinical urgency level

lowmediumhigh

Systems Affected

skinmucous membranesesophaguseyesnails

Severity Levels

mild

EB Simplex — blistering limited to hands and feet, heals without significant scarring, does not affect internal organs.

moderate

Junctional or mild dystrophic EB — blistering in multiple areas including mucous membranes, some scarring and nail involvement.

severe

Recessive Dystrophic EB (RDEB) — widespread blistering, scarring causing fusion of fingers or toes (pseudosyndactyly), esophageal strictures, high risk of squamous cell carcinoma, and life-threatening complications.

Red Flags

Blistering inside the mouth or throat making it hard to eat or swallow
Signs of wound infection: increasing redness, warmth, pus, or fever
Blisters appearing at birth or in the first weeks of life
Scarring that fuses fingers or restricts movement
Non-healing wound that changes in texture or appearance (possible SCC)
Eye irritation, redness, or vision changes

Clinical Presentation

Epidermolysis bullosa — blistering and erosions on the foot

Source: Wikimedia Commons (CC BY-SA 3.0 )

EB clinical image gallery — DermNet NZ

View gallery on DermNet NZ (image gallery reference)

When to See a Doctor

Any child born with fragile skin, blistering from minimal touch, or unexplained wounds should be evaluated by a dermatologist and genetic specialist immediately. In known EB patients, seek care for signs of wound infection, difficulty swallowing, or any non-healing or changing wound that may indicate skin cancer development.

Differential Diagnosis

Bullous impetigo (bacterial blistering infection)
Pemphigus (autoimmune blistering — not genetic)
Bullous pemphigoid
Staphylococcal scalded skin syndrome
Incontinentia pigmenti
Child abuse (misdiagnosis in infants)

Comorbidities

Squamous cell carcinoma (especially in RDEB — leading cause of death)
Malnutrition and failure to thrive
Esophageal strictures
Anemia (chronic wound-related)
Osteoporosis
Dental problems and oral scarring
Depression and anxiety

Prognosis

Prognosis varies dramatically by subtype. EB Simplex is compatible with a normal lifespan with good quality of life. Junctional EB Herlitz (the most severe form) is often fatal in infancy. Recessive Dystrophic EB causes progressive disability and a high risk of aggressive squamous cell carcinoma by the third or fourth decade of life. Gene therapy and protein replacement therapies are in advanced clinical trials as of 2024, offering hope for the future.

Detailed Overview

Causes, Symptoms, and When to Take Action Epidermolysis bullosa (EB) is a group of rare inherited skin disorders that cause extreme fragility of the skin. Even minor friction or trauma can lead to blisters and erosions. How It Looks Texture: Fragile skin that easily blisters or peels with gentle rubbing or pressure Color: Blisters may form on normal or reddened skin and can leave raw or crusted areas after rupture Shape: Lesions vary in size and may merge into larger erosions; healing often leads to scarring or small white bumps Location: Commonly affects hands, feet, knees, elbows, and may involve mucous membranes such as the mouth or esophagus in severe forms Why Does It Appear? Caused by genetic mutations that affect structural proteins responsible for skin integrity These mutations weaken the connection between layers of the skin, leading to blister formation after minimal injury Several subtypes exist, including simplex, junctional, and dystrophic, depending on which protein and skin layer are affected Should You Be Concerned? Yes. While EB is not cancerous, it can lead to significant complications: Chronic wounds, infections, and scarring Pain and restricted movement due to repeated skin injury Difficulty eating or swallowing if mucous membranes are involved In rare cases, long-term wounds may develop into skin cancer Medical evaluation by a dermatologist and genetic specialist is important for accurate diagnosis and ongoing care. Can You Prevent It? There is no known prevention, as EB is genetic Skin protection helps reduce trauma and complications: Avoid friction and tight clothing Use soft padding on affected areas Handle skin gently and maintain careful hygiene 👉 How Piel AI Can Help Piel AI allows users to monitor the appearance and healing of blisters over time. While not diagnostic, it helps track changes, identify worsening areas, and support communication with healthcare professionals. Summary Epidermolysis bullosa is a hereditary condition that causes skin to blister easily due to minor injury. It results from genetic defects affecting proteins that anchor skin layers. Symptoms range from mild blistering to severe systemic involvement. Prevention focuses on skin protection, wound care, and regular monitoring.

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