Exploring beyond the oral mucosa in patients affected with autoimmune blistering diseases: the importance of endoscopic procedures

Abstract

Autoimmune blistering diseases (AIBD) comprise several entities characterized by the presence of autoantibodies targeted against structural proteins either in desmosomes or in the dermoepidermal junction of polystratified squamous epithelium. Patients develop blisters, erosions in cutaneous surfaces or mucosas. Diagnosis is based on the characteristic mucocutaneous lesions, the typical findings on histological studies and direct immunofluorescence assays, and the presence of specific autoantibodies against the epidermal antigens. It may not be possible for dermatologists to appropriately explore the nose and throat (NT). Thus, a clinical exploration by endoscopic procedures of NT may be a useful tool during the conventional dermatological exam. The aims of this review are to draw attention to the most frequent NT manifestations in AIBD patients, and underline the utility of endoscopic procedures to achieve a more successful and rationale management of patients. Additionally, we will provide brief information related to the anatomical structures and type of epithelium in NT areas which may explain the extent and type of NT involvement in AIBD. Endoscopic exploration in AIBD patients is important for several reasons. Firstly, it will allow the real NT mucosal involvement in each patient to be determined, thus making a differential diagnosis during the endoscopic exam possible, based on the localization of mucosal lesions. Secondary mucosal morbidity can also be ruled out. Secondly, the clinical response to treatment may be established, especially in NT mucosa, as these are anatomical areas subjected to important local traumas, and physiological functions such as breathing, swallowing, speech production and phonation may be damaged. Therefore, a multidisciplinary management in AIBD is mandatory by both dermatologists and otorhinolaryngologists, adding the clinical exploration by endoscopic procedures of NT to the conventional dermatological exam in all AIBD patients, irrespective of whether they exhibit associated symptoms.

Review of autoimmune blistering diseases: the Pemphigoid diseases

“…Mucosa are affected in up to 80% of cases with nasopharyngeal and laryngeal predominance. Cheilitis, gingivitis and pain is described . Conjunctivitis, symblepharon and fibrosis does occur …”

“…EBA can affect the oesophagus presenting with dysphagia, odynophagia and heartburn and evidence of erosions and strictures on endoscopy . Non inflammatory EBA is more commonly associated with mucosal involvement with stenosis and scarring …”

“…More than 50% will have visual loss and only 35% maintain enough visual acuity to read . Nasal involvement in up to a third of cases include epistaxis, discharge, nasal stenosis, rhinitis and airway obstruction …”

“…60 Non inflammatory EBA is more commonly associated with mucosal involvement with stenosis and scarring. 61 Chen et al describes 5 main clinical presentations of EBA 3 which may co-exist within the same patient. 1 Classic presentation: mechanobullous lesions with skin fragility, haemorrhagic tense bullae which heal with milia and scars.…”

“…69,70 Nasal involvement in up to a third of cases include epistaxis, discharge, nasal stenosis, rhinitis and airway obstruction. 61 Disease limited to the oral mucosa alone or oral and skin combined have a favourable and benign prognosis without long term scarring. Involvement of the eyes, larynx, oesophagus, nasopharynx and genitals carry a poorer prognosis.…”