# Epidermolysis Bullosa > Epidermolysis bullosa for NEET-PG Paediatrics covering blistering types by level of cleavage, key gene defects and multidisciplinary wound care. - Canonical URL: https://prepelephant.com/topics/neet-pg/paediatrics/epidermolysis-bullosa - Exam / course: NEET-PG · Subject: Paediatrics - Publisher: PrepElephant (https://prepelephant.com) — Prepared and reviewed by the PrepElephant Academic Review Team - First published: 2026-10-14 - Last updated: 2026-10-14 - Reference basis: Rook's Textbook of Dermatology; Nelson Textbook of Pediatrics - How to cite: "Epidermolysis Bullosa", PrepElephant, https://prepelephant.com/topics/neet-pg/paediatrics/epidermolysis-bullosa ## Direct answer Epidermolysis bullosa is a group of inherited blistering genodermatoses in which minor friction causes the skin to separate at a level set by the affected protein. The main types are simplex, junctional and dystrophic, classified by the level of cleavage seen on biopsy. Management is gentle handling, non-adherent dressings, pain control, adequate nutrition and prevention of infection. ## What you must remember - **Simplex:** Cleavage within the basal keratinocytes, due to KRT5 or KRT14 mutations; usually mild and heals without scarring. - **Junctional:** Cleavage in the lamina lucida, due to laminin-332 gene mutations; the Herlitz form is often fatal in infancy. - **Pyloric atresia:** Strongly associated with junctional EB, classically the integrin alpha6 beta4 form (ITGB4 or ITGA6 mutations), which is distinct from the laminin-332 Herlitz form. - **Dystrophic:** Cleavage below the lamina densa, due to COL7A1 mutations in type VII collagen; the recessive form is more severe. - **Late cancer risk:** Squamous cell carcinoma can arise in chronic wounds of recessive dystrophic EB. - **Kindler syndrome:** Caused by FERMT1 mutations, with mixed cleavage levels and poikiloderma. - **Diagnosis:** Skin biopsy with immunofluorescence mapping or electron microscopy, plus genetic testing. - **Wound care:** Non-adherent dressings and no adhesive tape, with gentle handling throughout. ## A stepwise approach to multidisciplinary care Care is multidisciplinary, and the aim is to prevent new blisters as well as to treat the existing ones. The steps below reflect a typical specialist care plan for a child with EB. 1. **Confirm the type:** Biopsy with immunofluorescence mapping or electron microscopy, followed by genetic testing for the specific gene. 2. **Protect the skin:** Use soft clothing and avoid friction, tight dressings and adhesive tape on fragile skin. 3. **Dress the wounds:** Use non-adherent dressings changed gently, with analgesia given before each change. 4. **Prevent infection:** Watch for signs of wound infection and treat promptly, since infection slows healing and worsens scarring. 5. **Optimise nutrition:** Provide high calorie and protein intake and check iron status, because chronic wounds raise energy needs. 6. **Manage complications:** Address oral, oesophageal and corneal involvement, and refer infants with pyloric atresia for surgical review. 7. **Screen later in life:** Monitor for squamous cell carcinoma in long-standing wounds of recessive dystrophic EB. Genetic counselling for families is part of the same plan, because the inheritance pattern shapes the risk for future pregnancies. ## Where the exam tries to catch you Epidermolysis bullosa questions usually test the cleavage level and the complications that follow it. - **Trap:** Treating every blistering disease in a child as autoimmune. — **Correct:** Epidermolysis bullosa is inherited, so immunofluorescence and genetic testing distinguish it from autoimmune blistering disorders. - **Trap:** Assuming all EB types are equally severe. — **Correct:** Simplex types are often mild, whereas Herlitz junctional and recessive dystrophic EB are severe. - **Trap:** Using adhesive tape over blistered skin. — **Correct:** Adhesive tape strips fragile skin and creates new wounds, so non-adherent dressings are used. - **Trap:** Overlooking pyloric atresia in an infant with junctional EB. — **Correct:** Junctional EB with integrin alpha6 beta4 (ITGB4 or ITGA6) defects is classically associated with pyloric atresia, which needs surgical review. ## Frequently asked questions ### Which genes are mutated in junctional epidermolysis bullosa? Junctional epidermolysis bullosa is caused by mutations in the laminin-332 genes, including LAMA3, LAMB3 and LAMC2. The blister forms in the lamina lucida of the basement membrane zone. The Herlitz form is the most severe and is often fatal in infancy. ### What is the cleavage level in dystrophic epidermolysis bullosa? In dystrophic epidermolysis bullosa, the blister forms below the lamina densa, within the upper dermis. It is caused by COL7A1 mutations, which affect type VII collagen. Recessive forms are more severe than dominant forms and can cause scarring and late squamous cell carcinoma. ### Why is pyloric atresia relevant in epidermolysis bullosa? Pyloric atresia is relevant in epidermolysis bullosa because it is strongly associated with junctional EB, classically the integrin alpha6 beta4 form (ITGB4 or ITGA6 mutations). It can present in a neonate with vomiting and needs early surgical assessment. Recognising it early changes the management plan for the infant. ### How is epidermolysis bullosa diagnosed? Epidermolysis bullosa is diagnosed by skin biopsy with immunofluorescence mapping or electron microscopy, which shows the level at which the blister forms. Genetic testing then identifies the specific gene and mutation. The result guides prognosis and counselling for future pregnancies in the family.