Epidermolysis Bullosa – Symptoms and Causes

Overview

Epidermolysis bullosa is a rare genetic condition characterized by extremely fragile skin that blisters easily. These blisters typically form after minor injuries, heat exposure, friction, or even gentle scratching.

In more severe cases, blistering can occur internally, affecting the mouth lining or stomach.

This inherited disorder usually becomes apparent during infancy or early childhood, though some individuals may not develop symptoms until adolescence or young adulthood. The condition varies in severity across different patients.

While there is no cure for epidermolysis bullosa, milder forms may show improvement as patients age.

Treatment primarily focuses on:

• Protecting the skin from damage
• Proper blister care
• Preventing new blister formation
• Managing pain and complications

Medical teams work closely with patients to develop personalized care plans that address their specific symptoms and needs.

Signs and Symptoms

People with epidermolysis bullosa often have skin that breaks and blisters easily. The skin becomes very fragile, especially on the hands and feet.

You might notice thick or poorly formed nails. Blisters can also form inside the mouth and throat, making eating painful.

Some people lose hair where the scalp blisters and scars. The skin may look unusually thin in affected areas. Small white bumps called milia might appear on the skin. Tooth problems are common, as are swallowing difficulties.

Many people experience itchy and painful skin.

Most babies with this condition show blisters shortly after birth. Sometimes blisters appear when toddlers start walking or when older children try new activities that rub against their feet.

When to Get Medical Help

Call your doctor if you notice unexplained blisters on yourself or your child. For babies, severe blistering can be dangerous and needs immediate attention.

Get emergency medical care if:

• Swallowing becomes difficult
• Breathing problems develop
• Signs of infection appear, such as:
  • Warm, painful, or swollen skin
  • Pus coming from sores
  • Unusual odor from wounds
  • Fever or chills

Causes

Epidermolysis bullosa stems from genetic factors passed down through families. This condition can be inherited in two main ways: from just one parent who has the condition (autosomal dominant inheritance) or from both parents (autosomal recessive inheritance).

The skin consists of two primary layers – the outer epidermis and the inner dermis. These layers meet at what’s called the basement membrane.

Epidermolysis bullosa causes these layers to separate easily, forming blisters. Sometimes even minor bumps or friction can trigger blistering, and in some cases, blisters form without any obvious cause.

There are four main types of epidermolysis bullosa:

1. Epidermolysis Bullosa Simplex:

   • Most common type
   • Affects outer skin layer
   • Triggered by heat and friction
   • Primarily affects palms and feet
   • Heals without scarring

2. Junctional Epidermolysis Bullosa:

   • Can be severe
   • Begins in infancy
   • May cause hoarse crying due to vocal cord blistering and scarring

3. Dystrophic Epidermolysis Bullosa:

   • Linked to a gene flaw affecting proteins that connect skin layers
   • Can cause thin-appearing skin
   • Affects mucous membranes, leading to eating difficulties and constipation

4. Kindler Syndrome:

   • Causes blisters across multiple skin layers
   • Appears differently from person to person
   • Usually begins in infancy or early childhood
   • Increases sensitivity to sun
   • Skin appears thin, mottled and wrinkled

It’s worth noting that another condition called epidermolysis bullosa acquisita exists, but it differs from these four types because it isn’t inherited and rarely affects children.

Risk Factors

Having family members with epidermolysis bullosa is the main risk factor for developing this condition. The disorder passes from parents to children through genes, following specific inheritance patterns.

Possible Health Issues

Epidermolysis bullosa can lead to several serious health problems even with treatment. Knowing these issues early helps with better care.

Skin infections are common when blisters break open. Bacteria can enter these wounds and cause problems.

In severe cases, these infections may spread to the bloodstream, causing sepsis. This serious condition can quickly lead to shock and organ failure if not treated right away.

Physical changes may occur in severe forms of the disease. Fingers or toes might stick together, and joints can bend unusually. These changes, called contractures, can make it hard to use fingers, knees, and elbows normally.

Eating and Nutrition Problems

• Mouth blisters make eating painful
• Can lead to poor nutrition and anemia
• May slow wound healing and growth in children
• Can cause constipation from not eating enough fiber

Dental health suffers when blisters form in the mouth. Tooth decay and gum problems are frequent issues for many patients.

Cancer risk increases for some patients. Teens and adults with certain types of the condition face higher chances of developing squamous cell carcinoma, a form of skin cancer.

The most severe forms of epidermolysis bullosa can be life-threatening, especially in infants. Widespread blistering leads to fluid loss and infection risk. When blisters form in the throat and mouth, breathing and eating become extremely difficult.

Ways to Prevent Blisters and Infections

While epidermolysis bullosa cannot be prevented entirely, several steps can help reduce blister formation and prevent infections.

Gentle handling techniques are essential. When picking up a child with this condition, place them on soft material and support their buttocks and neck.

Never lift them from under the arms, as this can cause skin damage.

Diaper care requires special attention:

• Remove elastic bands from diapers
• Avoid using cleansing wipes
• Line diapers with nonstick dressing
• Apply thick zinc oxide paste

Environmental and Clothing Considerations:

• Keep your home cool with steady temperatures
• Apply moisturizer gently throughout the day
• Choose soft clothing that’s easy to put on and take off
• Turn clothing inside-out to prevent irritation from seams and tags
• Add foam padding to clothing at pressure points like elbows and knees
• Use soft, specialized shoes when possible

Regularly trim your child’s fingernails to prevent scratching that can damage skin.

Cover hard surfaces like car seats and bathtubs with sheepskin, foam, or thick towels. A top layer of soft cotton or silk can provide additional protection.

As children grow, encourage activities with lower risk of skin injury. Swimming is particularly beneficial.

For milder forms of the condition, protective clothing like long pants and sleeves can help during outdoor activities.