Paeds SAQs · paediatric-dermatology
Epidermolysis bullosa and inherited blistering disorders — short-answer questions
Two short-answer questions on the classification, neonatal presentation, diagnostic biopsy and atraumatic multidisciplinary management of inherited epidermolysis bullosa in children, including recessive dystrophic EB and squamous cell carcinoma surveillance.
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Target exams
RACP DWEMRCPCH Theory
Prompt
A term neonate born after an uneventful pregnancy is noted at delivery to have large erosions over the shins, feet and occiput, with smaller flaccid blisters on the fingers where monitoring leads were taped. There is no family history of skin disease and the parents are non-consanguineous. The infant feeds poorly and has a hoarse cry. Over the first days of life new erosions appear wherever the skin is rubbed or handled.
Question 1 (10 marks)
Outline the differential diagnosis of blistering at birth, state the most likely inherited epidermolysis bullosa subtype suggested by the hoarse cry and periorificial pattern, and describe how you would confirm the diagnosis and classify the disease. [1]
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- [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
- [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