Congenital epidermolysis bullosa presenting with extensive bullous lesions at birth: a rare neonatal case report

Yusra Qureshi; M. Faizan; Benish Bashir; Mohammad Aleem

doi:10.18203/2349-3291.ijcp20263323

Authors

Yusra Qureshi Department of Amraz e Niswan wa Qabalat, University College of Unani, Tonk, Rajasthan, India
M. Faizan Department of Moalajat, School of Unani Medical Education and Research, Jamia Hamdard, New Delhi, India https://orcid.org/0009-0004-2867-2789
Benish Bashir Department of Dermatology and Cosmetology, Kashmir Tibbia College Hospital and Research Centre, Sonawari, Bandipora, Jammu and Kashmir, India
Mohammad Aleem Department of Ilaj-bit-Tadbeer, University College of Unani, Tonk, Rajasthan, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20263323

Keywords:

Epidermolysis bullosa, Neonatal blistering disorder, Butterfly children, Rare genetic skin disorder, Congenital skin fragility

Abstract

Epidermolysis bullosa (EB) is a rare inherited genodermatosis characterized by marked skin fragility and blister formation after minimal mechanical trauma. It includes a spectrum of disorders such as EB simplex, junctional EB, dystrophic EB, and Kindler syndrome, with variable severity ranging from localized to life-threatening disease. A 28-year-old gravida 2 para 1 woman at 40+3 weeks of gestation with oligohydramnios underwent emergency lower segment cesarean section following failed induction and fetal bradycardia, delivering a live male neonate. At birth, the infant had extensive erythematous raw areas, skin peeling, and hemorrhagic bullous lesions over the extremities. A clinical diagnosis of epidermolysis bullosa simplex was made. The neonate developed progressive widespread blistering with mucosal involvement, fever, and worsening clinical condition was referred to a tertiary centre despite intensive supportive care succumbed at 42 days of life. This case highlights severe neonatal EB with poor outcome, emphasizing early recognition, supportive care, and genetic counselling.

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