Journals on Medical Casereports - BJSTR Journal

Abstract

#Epidermolysis Bullosa is a spectrum of genetic diseases containing more than 25 subtypes of diseases. The most important characteristic of this disease group is the predisposition towards mechanical fragility which results in blistering of skin and mucous membranes. #Mucosal involvement of the ear, nose, and throat areas can cause significant morbidity, especially in junctional and recessive #dystrophic EB subtypes. ENT surgeons are frequently involved in the management of EB patients. Thus, in this article, we summarize the important points for ENT surgeons in the management, examination and procedural approach for EB patients.#Epidermolysis Bullosa (EB) is a spectrum of genetic bullous diseases containing more than 25 subtypes of bullous diseases. The #pathogenesis involves genetic defects in structural proteins of the skin and mucosa. The most important characteristic of this disease group is the predisposition towards mechanical fragility which results in blistering of the skin and mucous #membranes. Mucosal involvement including ear, nose, and throat (ENT) areas can be significant, especially in severe subtypes such as junctional EB (JEB) and recessive #dystrophic EB (RDEB) [1]. However, even with the mild EB types like EB simplex (EBS), ENT procedures involved in examination and/or management of EB patients might lead discomfort, #blistering, bleeding and erosions on the mucosae.

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Ear, Nose and Throat Examination in Epidermolysis Bullosa and Procedural Approach by Dedee Frances Murrell in BJSTR

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