Epidermolysis bullosa (fragile, blistering skin)

Overview

Even gentle rubbing can cause blisters and wounds.

New gene and wound treatments are becoming available.

The skin layers don't hold together, so blisters form with rubbing.

Some types also affect the mouth and food pipe.

Symptoms

Common signs:

• Blisters from light touch

Less common

• Nail loss

When to get medical care

Causes

Genes.

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

• Biopsy:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

• Soft clothing
• Special dressings

Prevention

To lower your risk or prevent problems:

• Genetic counseling

Which doctor treats this

• Urgent care or the ER can treat it first. For minor problems, your primary care provider can help.
• They may send you to a dermatologist (skin doctor).

Living with it

Support groups and helplines

• Genetic and Rare Diseases Information Center (GARD): Free NIH information on rare diseases, including where to find experts and patient groups.
• National Organization for Rare Disorders (NORD): Patient groups, help finding care, and aid programs for rare diseases.

Back to school, work, or sports

• Most people can go to school or work. Keep the wound clean and covered.
• Avoid pools and hot tubs until the skin heals.

Children, pregnancy, and older adults

• Babies: Handle on a soft pad, never by the armpits.

Outlook

Care helps prevent infections and scarring.

Mild types improve with age.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

• A list of your medicines and supplements
• Notes on when symptoms started and what makes them better or worse

Questions to ask

• What's causing this?
• What treatment do you recommend?
• Is there a specialty EB center near us?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Epidermolysis bullosa (fragile, blistering skin)