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Junctional epidermolysis bullosa

Author: Jane Widdowson et al, DEBRA New Zealand, February 2016. Minor update October 2023.


What is epidermolysis bullosa?

Epidermolysis bullosa (EB) is a group of inherited diseases that are characterised by blistering lesions on the skin and mucous membranes. These may occur anywhere on the body but most commonly appear at sites of friction and minor trauma such as the feet and hands. In some subtypes, blisters may also occur on internal organs, such as the oesophagus, stomach and respiratory tract, without any apparent friction.

What is junctional epidermolysis bullosa?

In junctional epidermolysis bullosa simplex (JEB), the site of blister formation within skin is the lamina lucida within the basement membrane zone. It causes generalised blistering of the skin and internal mucous membranes of varying severity.

Who gets junctional epidermolysis bullosa?

JEB is a rare inherited disease. Most subtypes of JEB are of autosomal recessive inheritance of specific mutated genes (eg, LAMB3 gene). JEB occurs equally in males and females.

What are the clinical features of junctional epidermolysis bullosa?

JEB Subtypes Features
Generalised severe JEB
Previously known as Herlitz JEB
  • Generalised and most severe form of JEB where blisters appear all over the body and often involve mucous membranes and internal organs
  • May only present at birth with small single blister but becoming more widespread soon after
  • Hoarse cry or cough is indicative of internal organ involvement
  • Complications such as infection, malnutrition and dehydration usually lead to early death in infancy
  • Most cases are lethal within the first 12–24 months of life
Generalised intermediate JEB
Previously known as non-Herlitz JEB
  • Generalised blistering and mucosal involvement present at birth or soon after
  • Scalp, nails and teeth more involved
  • Complications such as infection, malnutrition and dehydration may cause death in infancy but those who survive clinically improve with increasing age

How is junctional epidermolysis bullosa diagnosed?

In the dominant subtypes of EB, where an informative family tree is known, it is often acceptable for a clinical diagnosis to be made by a specialist dermatologist based on the presenting signs. Diagnostic tests are also available in some countries and include immunofluorescence antigen mapping (IFM) and/or transmission electron microscopy (EM) of a skin biopsy of a newly induced blister.

Mutational analysis (blood testing of genes) is also available in some countries

What is the treatment of junctional epidermolysis bullosa?

See treatment of epidermolysis bullosa – general.

  • Where available, gel-type and silicone dressings are most suitable for infants with JEB, as they cause low degree of trauma on removal.
  • Oleogel-S10, containing birch triterpenes or birch bark extract, has been shown to accelerate the healing of chronic wounds in junctional and dystrophic epidermolysis bullosa.
  • Management of respiratory symptoms may include humidified oxygen and medications

What is the outcome for patients with junctional epidermolysis bullosa?

There is a high mortality (death) rate in JEB — especially generalised severe JEB, regardless of medical intervention.



  • OMIM – Online Mendelian Inheritance in Man (search term Epidermolysis bullosa)
  • Epidermolysis Bullosa Simplex — GeneTests GeneReviews
  • Dystrophic Epidermolysis Bullosa — GeneTests GeneReviews
  • Dermatologic Clinics Volume 28, Issue 1, Pages 1-196 (January 2010) Epidermolysis Bullosa: Part I – Pathogenesis and Clinical Features. Journal
  • Dermatologic Clinics Volume 28, Issue 2, Pages 197-452 (April 2010) Epidermolysis Bullosa: Part II – Diagnosis and Management. Journal
  • El Hachem M, Zambruno G, Bourdon-Lanoy E, Ciasulli A, Buisson C, Hadj-Rabia S, Diociaiuti A, Gouveia CF, Hernández-Martín A, de Lucas Laguna R, Dolenc-Voljč M, Tadini G, Salvatori G, De Ranieri C, Leclerc-Mercier S, Bodemer C. Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet J Rare Dis. 2014 May 20;9:76. doi: 10.1186/1750-1172-9-76. Review. PubMed PMID: 24884811; PubMed Central PMCID: PMC4110526.
  • Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, Marinkovich MP, Martinez AE, McGrath JA, Mellerio JE, Moss C, Murrell DF, Shimizu H, Uitto J, Woodley D, Zambruno G. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014 Jun;70(6):1103-26. doi: 10.1016/j.jaad.2014.01.903. Epub 2014 Mar 29. Review. PubMed PMID: 24690439..

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