De novo epidermolysis bullosa simplex in sasak Tribe Newborn, East Lombok, Indonesia: A rare case

Abstract

Introduction: Epidermolysis Bullosa Simplex (EBS) is one of the major forms of rare genodermatosis EB characterized by non-scarring bulla on the skin or mucosa induced by minor trauma. The worldwide prevalence of EBS is estimated 1 in 50,000 births. The most common etiology of EBS is mutations gene KRT5 and KRT14 who were genetically inherited or de novo in sporadic case. Case: A newborn from the Sasak tribe without a family history of blistering disease was referred to emergency room with generalized multiple blisters with exfoliate skin at birth. Discussion: The accurate diagnosis of EB types and subtypes is important for the management and prognosis of the disease. Many developing countries have difficulty access for advanced laboratory facilities to support the diagnosis of EB while clinically diagnoses are often inaccurate. Clinical Diagnostic Matrix (CDM) is a simple clinical diagnostic tool that can used by the clinical practitioner in limited resource conditions to diagnose type and subtype EB. Conclusion: EBS is the most common type of EB with a generalized form in most sporadic cases. CDM can be used as a diagnostic tool for diagnosis EB more accurately in developing countries such as Indonesia.