Recessive Dystrophic Epidermolysis Bullosa in a Resource-Limited Setting: A Case Report From Mohamed Adam Sheikh...

Epidermolysis Bullosa (EB) is a rare, genetically determined mechanobullous disorder characterized by profound skin and mucosal fragility. The management of EB is complex, multidisciplinary, and palliative, posing extreme challenges in resource-limited settings where diagnostic capabilities and specialized care are scarce. This report highlights the utility of clinical acumen and the devastating impact of socioeconomic barriers on disease progression.

A 4-year-old male from rural Somaliland presented to a tertiary children's hospital with a lifelong history of trauma-induced blistering pseudohypertrophic scarring, and digital contractures. Born to consanguineous parents, who presented with a lifelong history of trauma-induced fragile blisters, erosions, and crustations affecting his limbs, abdomen, and oral mucosa. Examination revealed flaccid bullae, erosions, hemorrhagic crusts, secondary bacterial infection, and disabling finger contractures. A sibling had died in infancy with similar symptoms. A clinical diagnosis of severe, recessive dystrophic EB was made. Diagnostic confirmation via skin biopsy was declined by the caregivers. Management with oral antibiotics, topical wound care, and education was initiated, however, the patient was lost to follow-up due to extreme poverty and geographical isolation. The patient was lost to follow-up after discharge due to socioeconomic barriers and a return to a remote village, highlighting the fragility of care continuity.

This case epitomizes the profound challenges of managing a severe genodermatosis within a fragile health system. It underscores the critical reliance on clinical acumen in the absence of diagnostic tools and illustrates how poverty, social disruption, and geographical barriers converge to exacerbate morbidity and preclude long-term management. The report calls for context-specific strategies, including training in basic EB wound care, development of low-cost care protocols, and enhanced support systems for patients and caregivers in underserved regions.