Paeds · paediatric-dermatology
Epidermolysis bullosa and inherited blistering disorders
Also known as epidermolysis bullosa · EB · EB simplex · junctional EB · dystrophic EB · recessive dystrophic epidermolysis bullosa · RDEB · Herlitz junctional epidermolysis bullosa · Weber-Cockayne · Dowling-Meara · Hallopeau-Siemens · Kindler syndrome · mechanobullous disorder · skin fragility disorder
Inherited epidermolysis bullosa and related mechanobullous disorders are a genetically heterogeneous group in which mutations in structural skin proteins cause fragile skin that blisters after minor friction or trauma; the four major types are EB simplex, junctional EB, dystrophic EB and Kindler EB, classified by the ultrastructural level of blister cleavage and managed with lifelong atraumatic wound care, pain control, nutrition, surgery and multidisciplinary surveillance.
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Target exams
Red flags
- a neonate with extensive blistering and erosion at birth plus a hoarse cry or stridor suggesting junctional EB generalised severe, which can obstruct the airway and prove lethal in infancy
- a non-healing chronic wound in recessive dystrophic EB that enlarges, ulcerates or becomes nodular, which is cutaneous squamous cell carcinoma until biopsy proves otherwise
- rapid spreading erythema, fever and toxicity over blistered skin indicating invasive bacterial sepsis from Staphylococcus aureus or Streptococcus pyogenes colonisation of chronic wounds
- dysphagia, drooling and poor weight gain in recessive dystrophic EB pointing to oesophageal stricturing and feeding failure that can precipitate severe malnutrition and anaemia
- an infant with blistering and failure to pass feeds or bile-stained vomiting suggesting junctional EB with pyloric atresia, a neonatal surgical emergency
- hand webbing or mitten deformity from recurrent blistering and scarring in recessive dystrophic EB that needs early hand-surgery referral to preserve function before contractures fix
Life stages
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Clinical exam formats
Board mappings
- recognise epidermolysis bullosa and inherited blistering disorders as a cause of neonatal and infantile skin fragility
- describe the four major EB types by level of cleavage and explain atraumatic handling and non-adherent wound care
- differentiate EB simplex, junctional, dystrophic and Kindler subtypes using immunofluorescence mapping and genetic testing
- coordinate multidisciplinary care including SCC surveillance, gene therapy eligibility and transition
- high-yield: the four EB types and their cleavage levels and genes, neonatal blistering differential, IFM biopsy diagnosis, atraumatic wound-care principles, RDEB SCC risk
- long or short-case assessment and counselling of a child with inherited blistering disorder and family-focused wound-care planning
- recognises genetic blistering disorders, understands multidisciplinary management and the impact on growth and quality of life
- classification of EB by cleavage level, genes (KRT5/14, LAMA3/LAMB3/LAMC2, COL17A1, COL7A1, FERMT1), Herlitz features, RDEB complications including SCC
- assess and counsel the family of a child with inherited EB on wound care and prognosis
- inherited blistering disorders — diagnosis by biopsy mapping, atraumatic management and recognition of complications
- diagnose and manage inherited EB, organise multidisciplinary and family-centred care, and screen for squamous cell carcinoma
- epidermolysis bullosa — classify, diagnose with immunofluorescence mapping, manage complications and coordinate transition
Overview & Definition
A baby born with skin that shears away at the lightest touch is the face of epidermolysis bullosa, a group of inherited mechanobullous disorders in which mutations in the structural proteins that hold the skin together leave it too fragile to withstand ordinary friction or minor trauma. Where a healthy child shrugs off a knock or a tight shoe, a child with EB blisters, erodes and sometimes scars. The blistering is mechanical rather than inflammatory: it appears where the skin is rubbed, and it can affect the mucous membranes, nails, hair, teeth, eyes and airway as readily as the skin. [9]
The unifying defect is a loss of adhesion somewhere along the epidermis-to-dermis axis. The keratinocytes of the basal layer, the basement membrane zone, and the anchoring fibrils that tether it to the dermis form a chain, and a weakness at any one link produces a distinct disease with its own severity, complications and prognosis. This is why EB is classified not by its clinical appearance alone but by the ultrastructural level at which the skin splits, because that split localises the defective protein and predicts the course. [1]
EB is a lifelong, multisystem condition rather than a purely dermatological one. Severe subtypes cause chronic wound pain, growth failure and anaemia, oesophageal and airway disease, limb deformity, and a markedly increased risk of aggressive skin cancer, so care is built around a multidisciplinary team rather than a single clinician. No therapy reverses the genetic defect in most patients, but atraumatic wound care, pain control, nutrition, surgery, surveillance and, for some, gene therapy transform outcome and quality of life. [11]
References12ShowHide
- [1]Fine JD, Bruckner-Tuderman L, Eady RA Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol, 2014.PMID 24690439
- [2]Has C, Bauer JW, Bodemer C Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol, 2020.PMID 32017015
- [3]Guide SV, Gonzalez ME, Bağcı IS Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa. N Engl J Med, 2022.PMID 36516090
- [4]Marinkovich MP, Paller AS, Guide SV Long-Term Safety and Tolerability of Beremagene Geperpavec-svdt (B-VEC) in an Open-Label Extension Study of Patients with Dystrophic Epidermolysis Bullosa. Am J Clin Dermatol, 2025.PMID 40220208
- [5]Mariath LM, Santin JT, Schuler-Faccini L Inherited epidermolysis bullosa: update on the clinical and genetic aspects. An Bras Dermatol, 2020.PMID 32732072
- [6]Chandrasekaran A, Moser JC Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: A Review of Pathogenesis, Diagnosis and Management. Cancers, 2025.PMID 41097738
- [7]Marwah MK, Kaur K, Ahmad S Innovations in topical epidermolysis bullosa treatment: integrating advanced dressings, bioactive therapies and tissue-engineered skin. Daru, 2026.PMID 41931158
- [8]Andreou S, Sarsam S, Murrell DF Understanding the efficacy and tolerability of topical therapies for epidermolysis bullosa. Expert Rev Clin Pharmacol, 2026.PMID 41772988
- [9]Fine JD Inherited epidermolysis bullosa. Orphanet J Rare Dis, 2010.PMID 20507631
- [10]Fine JD, Johnson LB, Weiner M Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. J Am Acad Dermatol, 2009.PMID 19026465
- [11]El Hachem M, Diociaiuti A, Bonamonte D Taking care of patients with recessive dystrophic epidermolysis bullosa from birth to adulthood: a multidisciplinary Italian Delphi consensus. Orphanet J Rare Dis, 2025.PMID 40091088
- [12]Rechichi J, De Rose DU, Pugnaloni F Use of Tramadol in Pain Management of Neonates with Epidermolysis Bullosa: A Single-Center Experience. Children (Basel), 2026.PMID 42353915