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Epidermolysis Bullosa (EB)

Group of inherited mechanobullous disorders caused by defects in skin adhesion proteins.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dermatoloji department. Book Appointment →

What is Epidermolysis Bullosa (EB)?

Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterized by fragility of the skin and mucosae, leading to blisters and erosions in response to minor friction or trauma.

Major subtypes include EB simplex (basal keratin defects), junctional EB (laminin-332 or collagen XVII defects) and dystrophic EB (collagen VII defects). Inheritance is autosomal dominant or recessive depending on subtype.

Diagnosis combines clinical features, immunofluorescence mapping of skin biopsy, transmission electron microscopy and genetic testing. Disease severity, complications and prognosis vary widely across subtypes.

Symptoms

Blisters and erosions on hands, feet and pressure areas
Scarring and milia in dystrophic forms
Nail dystrophy and loss
Oral and esophageal blisters causing dysphagia
Pseudosyndactyly (mitten deformity) in severe forms
Failure to thrive in neonates with severe disease
Increased squamous cell carcinoma risk in chronic wounds

Risk Factors

Affected parent or sibling
Consanguinity (recessive forms)
Pathogenic variant in KRT5/14, COL7A1, LAMB3, COL17A1, etc.
History of recurrent blistering since infancy
Friction-prone activities and ill-fitting footwear

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Recurrent blisters in a newborn
  • Generalized blistering with fever or sepsis suspicion
  • Inability to swallow or significant weight loss
  • Non-healing chronic wounds with suspicious nodules
  • Family history of EB seeking prenatal counseling

Treatment Methods

01
Multidisciplinary EB team (dermatology, nutrition, orthopedics, pediatrics)
02
Specialized wound care with non-adherent dressings
03
Pain control and itch management
04
Nutritional support and gastrostomy when needed
05
Esophageal dilation for strictures
06
Emerging gene/cell therapies (e.g., beremagene geperpavec) for selected subtypes
07
Genetic counseling and prenatal options

Which Department to Visit?

You can visit our Dermatoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.