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Skin diseases

Epidermolysis bullosa (butterfly skin disease)

An inherited skin disease in which the skin blisters and forms wounds with even the slightest friction.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Orphanet has a guideline for emergency doctors for this disease (language: French, Italian). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

Epidermolysis bullosa is a group of inherited diseases in which the skin is very fragile. There is a problem with the proteins that hold the layers of the skin together. Because of this, even slight rubbing causes blisters and wounds. In some types, internal organs can also be affected.

Which symptoms can occur?

How severe the disease is varies greatly depending on the type. In mild types, mainly the hands and feet are affected.

  • Blisters that form easily with rubbing or a light knock (common)
  • Blisters on the palms and soles of the feet (common)
  • Thickening and scarring of the skin; thickened nails (common)
  • Widespread wounds on the body and involvement of internal organs (sometimes; in severe types)

How is it diagnosed?

The diagnosis is usually made in infancy or early childhood by a skin specialist. The history of the person and the family is carefully assessed. A small sample of skin (biopsy) is taken and examined. A genetic test can also help to determine the type.

Treatment and care

There is not yet a cure for the disease. Care focuses on protecting the skin from knocks and rubbing. Special wound care and dressings, pain control and nutritional support are important. Care is provided by a team of different specialists. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

Depending on the type, EB is passed on through dominant or recessive inheritance. Sometimes the change arises for the first time in the child. Genetic counselling is recommended for families; in families at risk, testing can be done during pregnancy.

Source: Orphanet – Inherited epidermolysis bullosa · NHS – Epidermolysis bullosa

Key facts

How common is it?
Prevalence: 1-9 per 1 000 000 (Europe) · Birth prevalence: 1-9 per 100 000 (Europe)
When does it usually start?
Any age
Reliable sources
Orphanet

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

For all rare diseases: Nadir Hastalıklar Federasyonu

Links checked on October 8, 2026.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about EB

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 31 active interventional studies for this disease. 14 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Skin diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:79361

ICD-11 codes for its subtypes: EC30 (Epidermolysis bullosa simplex), EC31 (Junctional epidermolysis bullosa), EC32 (Dystrophic epidermolysis bullosa), EC33 (Syndromic epidermolysis bullosa)

Codes checked against WHO ICD-11 and Orphanet on October 6, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.