Occam's Razor Versus Hickam's Dictum: A Case Report of Junctional Epidermolysis Bullosa and Lower Urinary Tract Infection

Epidermolysis bullosa (EB) is a rare heterogeneous group of diseases which typically presents with extensive blistering and mucocutaneous erosions. EB is mechanobullous in nature and thus commonly involves sites of trauma and friction. It is a painful and disfiguring disorder. The involvement of different internal organs and systems, such as respiratory, genitourinary, and gastrointestinal systems, has been reported in the literature depending on the type of EB. We report a case of junctional epidermolysis bullosa (JEB) with urogenital involvement in a female child in Pakistan. JEB is a rare subtype of EB which is transmitted in an autosomal recessive pattern of inheritance. It classically affects neonates. Diagnosis is established after clinical examination, and investigations are directed at the exploration of skin lesions such as histopathological and direct immunofluorescence studies. Management of patients is primarily supportive.