Neonatal epidermolysis bullosa simplex: a mechanobullous skin fragility disease

Authors

  • Shireen Ahmed Department of Pediatrics, HBT Medical College and Dr R.N. Cooper Hospital Municipal General Hospital, Mumbai, Maharashtra, India
  • Baraturam Bhaisara Department of Pediatrics, HBT Medical College and Dr R.N. Cooper Hospital Municipal General Hospital, Mumbai, Maharashtra, India
  • Dhara Shah Department of Pediatrics, HBT Medical College and Dr R.N. Cooper Hospital Municipal General Hospital, Mumbai, Maharashtra, India
  • Abhay Trivedi Department of Pediatrics, HBT Medical College and Dr R.N. Cooper Hospital Municipal General Hospital, Mumbai, Maharashtra, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20260828

Keywords:

Epidermolysis bullosa, Newborn, Inherited skin disorder, Skin blistering, Skin fragility, Genodermatosis

Abstract

Epidermolysis bullosa (EB) is a group of hereditary skin blistering disorders characterised by skin fragility and mechanically induced blistering. We present a case of a full-term female neonate with widespread, fragile blisters and erosions at birth, prompting early suspicion of EB. Rapid dermatological evaluation and immunofluorescence antigen mapping confirmed EB simplex (EBS), allowing prompt intervention. Early parental counselling plays a crucial role in ensuring confidence in home care. After six weeks, the mother managed feeding and wound care independently. This case highlights the importance of recognising neonatal skin fragility early, facilitating timely diagnosis and intervention to minimise complications and improve long-term outcomes in infants with EB.

Metrics

Metrics Loading ...

Author Biographies

Shireen Ahmed, Department of Pediatrics, HBT Medical College and Dr R.N. Cooper Hospital Municipal General Hospital, Mumbai, Maharashtra, India

Junior Redident, Department of Pediatrics, HBT Medical College and Dr R.N. Cooper Hospital Municipal General Hospital

Baraturam Bhaisara, Department of Pediatrics, HBT Medical College and Dr R.N. Cooper Hospital Municipal General Hospital, Mumbai, Maharashtra, India

Additional Professor, Department of Pediatrics, HBT Medical College and Dr R.N. Cooper Hospital Municipal General Hospital

Dhara Shah, Department of Pediatrics, HBT Medical College and Dr R.N. Cooper Hospital Municipal General Hospital, Mumbai, Maharashtra, India

Assistant Professor, Department of Pediatrics, HBT Medical College and Dr R.N. Cooper Hospital Municipal General Hospital

References

Sawamura D, Nakano H, Matsuzaki Y. Overview of epidermolysis bullosa. J Dermatol. 2010;37:214-9. DOI: https://doi.org/10.1111/j.1346-8138.2009.00800.x

Fine JD, Eady RA, Bauer EA. The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB. J Am Acad Dermatol. 2008;58:931-50. DOI: https://doi.org/10.1016/j.jaad.2008.02.004

McGrath JA. Recently identified forms of epidermolysis bullosa. Ann Dermatol. 2015;27:658‐66. DOI: https://doi.org/10.5021/ad.2015.27.6.658

Takeichi T, Nanda A, Liu L, Salam A, Campbell P, Fong K, et al. Impact of next generation sequencing on diagnostics in a genetic skin disease clinic. Exp Dermatol. 2013;22:825‐31. DOI: https://doi.org/10.1111/exd.12276

Has C, Fischer J. Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes. Exp Dermatol. Epub. 2018;28(10):1146-52. DOI: https://doi.org/10.1111/exd.13668

Yuen WY, Duipmans JC, Molenbuur B, Herpertz I, Mandema JM, Jonkman MF. Long-term follow-up of patients with Herlitz-type junctional epidermolysis bullosa. Br J Dermatol. 2012;167(2):374-82. DOI: https://doi.org/10.1111/j.1365-2133.2012.10997.x

Gonzalez ME. Evaluation and treatment of the newborn with epidermolysis bullosa. Semin Perinatol. 2013;37(1):32-39. DOI: https://doi.org/10.1053/j.semperi.2012.11.004

Wally V, Hovnanian A, Ly J, Buckova H, Brunner V, Lettner T, et al. Diacerein orphan drug development for epidermolysis bullosa simplex: A phase 2/3 randomized, placebo-controlled, double-blind clinical trial. J Am Acad Dermatol. 2018;78:892-901. DOI: https://doi.org/10.1016/j.jaad.2018.01.019

Kumar V, Behr M, Kiritsi D, Scheffschick A, Grahnert A, Homberg M, et al. Keratin-dependent TSLP expression suggests a link between skin blistering and atopic disease. J Allergy Clin Immunol. 2016;138:1461-4. DOI: https://doi.org/10.1016/j.jaci.2016.04.046

Castela E, Tulic MK, Rozières A, Bourrat E, Nicolas JF, Kanitakis J, et al. Epidermolysis bullosa simplex generalized severe induces a Th17 response and is improved by apremilast treatment. Br J Dermatol. 2019;180(2):357-64. DOI: https://doi.org/10.1111/bjd.16897

AlKhawajah, NM, AlKhawajah MM, Aljomah NA, Alabduljabbar AA, Alkeraye S. Epidermolysis bullosa simplex clearance after nasopharyngeal carcinoma treatment. JAAD Case Rep. 2021;12:60-3. DOI: https://doi.org/10.1016/j.jdcr.2021.03.025

Downloads

Published

2026-03-25

How to Cite

Ahmed, S., Bhaisara, B., Shah, D., & Trivedi, A. (2026). Neonatal epidermolysis bullosa simplex: a mechanobullous skin fragility disease. International Journal of Contemporary Pediatrics, 13(4), 650–653. https://doi.org/10.18203/2349-3291.ijcp20260828

Issue

Section

Case Reports