Ear, Nose and Throat Examination in Epidermolysis Bullosa and Procedural Approach
Journal Title: Biomedical Journal of Scientific & Technical Research (BJSTR) - Year 2018, Vol 9, Issue 5
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. Thus, ENT surgeons should apply specific examination and procedural approach in the care of these patients. In this article, we aimed to summarise general recommendations and approaches to ENT examination and procedures in EB. ENT involvement is commonly seen in JEB and recessive DEB in which different structural proteins found in dermoepidermal junction and/or dermis are defective. However, mild forms (EBS) might also cause problems which complicate these patients' lives and reduce their quality of life. Although EB usually starts at birth, mild cases can go unnoticed. Symptoms can change according to the affected area and severity of the involvement. Involvement of the oral mucosa usually causes pain, bleeding because of erosions. Epistaxis and nose obstruction can be experienced with nasal mucosal involvement. Otitis media and otitis externa can be frequent in patients with EB [2-4]. However, most problematic mucous involvement areas are pharynx (causing dysphagia, odynophagia) and larynx (causing dysphonia, inspiratory stridor, hoarse cry, exuberant granulation tissue, scarring of the vocal cords, laryngeal stenosis and/or stricture). These areas often affected by more severe EB types (JEB and recessive DEB) [2-4]. All patients with EB should also be evaluated by a dentist to identify any problem because dental and mucosa abnormalities, enamel hypoplasia, frequent caries is common especially in recessive DEB and JEB [1].
Authors and Affiliations
Ismail Cem Temel, Asli Bilgic, Dedee Frances Murrell
Keywords
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- EP ID EP587876
- DOI 10.26717/BJSTR.2018.09.001866
- Views 162
- Downloads 0
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