Wings Through Thorn (depicting Epidermolysis Bullosa)

 

Author: XI CHENG

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Artwork Introduction:

This artwork depicts the disease Epidermolysis Bullosa. Patients with this disease may display fragile skins that blister or develop painful sores. This is why the girl in the painting was characterized by many red patches that show the symptoms. The symptoms like blistering and fragile skin are like the wing of butterfly in terms of fragility. That's why patients with Epidermolysis Bullosa are also called as "Butterfly Children", which were shown in the painting by the girl's butterfly wing.

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Disease Introduction: 

 

Epidermolysis Bullosa (EB)

Butterly Children refer specifically to patients with Epidermolysis Bullosa (EB), a group of rare inherited blistering disorders.

Type: Dermatological disease
Affected areas: Skin and mucous membranes, including eyes, mouth, esophagus, and respiratory tract.

 

General Information: 

Epidermolysis Bullosa (EB), commonly known as “Butterfly Children,” is a rare monogenic skin disorder listed as No. 39 in the First List of Rare Diseases issued by China’s National Health Commission. The condition is caused by gene defects that result in the absence or dysfunction of structural proteins in the skin. As a result, the skin becomes extremely fragile, unable to withstand even minor external forces.

EB can present at any age, from newborns to adults, and it has a strong hereditary component, with many patients passing the pathogenic mutations to the next generation. Clinical diagnosis typically involves patient history, characteristic skin manifestations, and genetic testing to confirm mutations. In some cases, skin biopsies with histopathology are required to identify subtypes.

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Symptoms:

The hallmark symptom is increased skin and mucosal fragility. Even minor trauma—such as friction or slight bumps—can cause blisters, erosions, or ulcerations. Blisters rupture easily, leaving slow-healing wounds that often scar. Severe cases may lead to skin contractures or fusion of fingers and toes.

Common complications include:

-Eyes: Conjunctival blisters and inflammation, potentially leading to vision loss or blindness with repeated episodes.

-Mouth: Blisters and ulcers causing pain and difficulty swallowing, leading to long-term nutritional issues.

-Esophagus: Mucosal injury may cause esophageal strictures, worsening swallowing difficulties.

-Respiratory tract: Blistering or scarring may cause coughing, airway obstruction, or breathing problems, which can be life-threatening.

 

Cause:

The disease results from genetic mutations in structural skin proteins (e.g., keratins, laminins). Mutations in genes such as KRT5, KRT14, LAMA3 disrupt protein synthesis or function, weakening connections between skin layers and making them prone to blistering under minimal stress.

Inheritance varies by subtype:

-EBS (Epidermolysis Bullosa Simplex): Often autosomal dominant.

-JEB (Junctional EB): Typically autosomal recessive.

-DEB (Dystrophic EB): May be either autosomal dominant or recessive.

-KEB (Kindler Syndrome): Mainly autosomal recessive.

 

Current Treatments:

At present, there is no cure for EB. Management focuses on symptom relief and supportive care, with the goals of protecting skin, preventing damage, promoting wound healing, reducing complications, and improving quality of life.

• Non-pharmacological care:

  • Use soft, loose clothing to minimize friction.

  • Avoid vigorous activities or trauma.

  • Clean wounds carefully and apply special dressings (e.g., hydrocolloid, foam) to reduce infection risk and promote healing.

  • Adjust diet for patients with oral or esophageal involvement, offering soft, easy-to-swallow foods and avoiding spicy or rough textures.

• Medications:

  • Antibiotics (topical mupirocin, oral cephalosporins) for skin infections.

  • Analgesics (acetaminophen, etc.) for pain relief.

  • Experimental use of growth factors (e.g., epidermal growth factor gel) for wound healing, though clinical efficacy remains under study.

• Research progress:

  • Gene therapy is being actively investigated. Some trials use viral vectors to introduce normal genes into patient skin cells to repair mutations. While promising, these methods are still experimental and not yet available for clinical application.