Epidermolysis bullosa and inherited blistering disorders — viva

Branching clinical structured oral on the classification, diagnostic biopsy and atraumatic multidisciplinary management of a neonate with inherited epidermolysis bullosa, including junctional EB generalised severe, the biopsy technique and recessive dystrophic EB complications.

branching clinical structured oral3 min readVerification in progress

Prompt

A term infant is delivered after an uncomplicated pregnancy and is noted immediately to have large erosions over the occiput, feet and shins, and flaccid blisters on the fingers where monitor leads were taped. The baby has a hoarse cry and feeds poorly. There is no family history of skin disease. New erosions appear wherever the skin is rubbed. You are asked to assess and manage the infant.

Opening (2 minutes)

The candidate should recognise the picture of inherited epidermolysis bullosa presenting at birth: erosions and blisters that track friction and handling, periorificial involvement, a hoarse cry, and poor feeding in a baby with no family history. The diagnosis is clinical but provisional, and a strong candidate commits to inherited EB, narrows the subtype, identifies the immediate airway and sepsis threats, and plans the atraumatic handling and the diagnostic biopsy in parallel rather than waiting for one to finish before starting the other. ^[1]

References4Show

[1]Fine JD, Bruckner-Tuderman L, Eady RA Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol, 2014.PMID 24690439
[5]Mariath LM, Santin JT, Schuler-Faccini L Inherited epidermolysis bullosa: update on the clinical and genetic aspects. An Bras Dermatol, 2020.PMID 32732072
[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
[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

Epidermolysis bullosa and inherited blistering disorders — viva

branching clinical structured oral3 min readVerification in progress

Opening (2 minutes)

References4Show

[1]Fine JD, Bruckner-Tuderman L, Eady RA Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol, 2014.PMID 24690439
[5]Mariath LM, Santin JT, Schuler-Faccini L Inherited epidermolysis bullosa: update on the clinical and genetic aspects. An Bras Dermatol, 2020.PMID 32732072
[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
[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