Acta Dermato-Venereologica 98-7CompleteContent | Page 11

660 CLINICAL REPORT Structured Diagnostic Approach and Risk Assessment in Mucous Membrane Pemphigoid with Oesophageal Involvement Sandrine BENOIT 1 , Michael SCHEURLEN 2 , Matthias GOEBELER 1 and Johanna STOEVESANDT 1 Departments of 1 Dermatology, Venereology and Allergology, and 2 Internal Medicine II, University Hospital Würzburg, Würzburg, Germany Oesophageal involvement in mucous membrane pem- phigoid is considered rare, but it may be underdiag- nosed. To assess the incidence of oesophageal invol- vement in a group of patients with newly diagnosed mucous membrane pemphigoid we retrospectively analysed the medical records of 30 consecutive pa- tients with mucous membrane pemphigoid diagno- s ed between 2006 and 2016 at the Department of Dermatology, University Hospital Würzburg. Twenty- one patients (70%) reported symptoms indicative of oeso­ phageal mucous membrane pemphigoid. Twelve patients (40%) underwent oesophagogastroduode- noscopy, and oesophageal pathology compatible with mucous membrane pemphigoid was endoscopically found in 9 cases (30%). In all patients indirect and direct immunofluorescence were performed. Patients with and without oesophageal involvement did not dif- fer with regard to the results of indirect immunofluo- rescence on salt-split human skin and monkey oeso­ phagus. Study results demonstrate the necessity of a standardized diagnostic work-up, including adequate tissue samples for direct immunofluorescence, to pre- vent underdiagnosis of oesophageal mucous mem- brane pemphigoid. Key words: cicatricial pemphigoid; mucous membrane pemphi- goid; oesophagogastroduodenoscopy; laminin 332. Accepted Apr 12, 2018; Epub ahead of print Apr 12, 2018 Acta Derm Venereol 2018; 98; 660–666. Corr: Sandrine Benoit, Department of Dermatology, Venereology and Allergology, University Hospital Würzburg, Josef-Schneider-Str. 2, DE- 97080 Würzburg, Germany. E-mail: [email protected] M ucous membrane pemphigoid (MMP) is a hetero- geneous group of subepidermal blistering autoim- mune diseases that may affect all mucous membranes and the skin. The clinical presentation of MMP varies depending on the distribution and severity of the disease. This includes a wide spectrum of symptoms ranging from almost asymptomatic erosions to severe cicatrisation, which may result in blindness and/or severe stenosis of the urinary tract or the oesophagus (1). Oral and ocular mucous membranes are most frequently involved (2–4). Oesophageal involvement is generally considered to be relatively rare (4–11%) (2–5), but there is a lack of studies assessing its actual incidence. Oesophageal symptoms may sometimes represent the sole manifestation of MMP (6–9). Dysphagia, odynophagia, pain in the oral cavity doi: 10.2340/00015555-2938 Acta Derm Venereol 2018; 98: 660–666 SIGNIFICANCE Mucous membrane pemphigoid (MMP) is a rare chronic autoimmune disease of the skin and mucous membranes. Oesophageal involvement is a potentially under-diagnosed “high-risk” complication necessitating intensive immuno­ suppressive treatment. In our current study we analysed the medical records and diagnostic findings of 30 patients with MMP. We found that a thorough diagnostic work-up is required for early detection of oesophageal involvement. Patients with newly diagnosed MMP complaining of a loss of weight or difficulty in swallowing need to undergo oesopha- goscopy including biopsies for direct immunofluorescence. or throat, weight loss, and/or inability to ingest solid food have been described as indicative of MMP with oesophageal affection (5). Similar symptoms, however, can also be caused by pharyngeal involvement or af- fection of the oral cavity. Apart from recommendations from an international consensus group published in 2002, no evidence-based guidelines for the diagnosis and treatment of MMP are available to date (10). As patients present to different specialists (i.e. ophthalmologists, dermatologists, gastroenterologists, otolaryngologists, urologists, and/or gynaecologists) depending on their symptoms, establishing an accurate diagnosis and the full extent of the disease may be challenging. Rare ma- nifestations, including oesophageal involvement, are likely to remain underdiagnosed due to an incomplete diagnostic work-up at initial diagnosis and during the further course of the disease. The purpose of this retrospective study was to assess the incidence of oesophageal involvement in a group of patients with newly diagnosed MMP and to evaluate clinical findings and autoimmunological profiles asso- ciated with oesophageal manifestations of MMP. MATERIALS AND METHODS Patients Medical records of 30 consecutive patients were available for retrospective evaluation. Individual cases were eligible for study inclusion if they had a definite diagnosis of MMP and were treated between January 2006 and August 2016 at our department, a ter- tiary university hospital-based referral centre. All patient-related diagnostic and therapeutic procedures were part of routine practice. Written informed consent was obtained for oesophagogastroduo- denoscopy (EGD) and biopsies. This is an open access article under the CC BY-NC license. www.medicaljournals.se/acta Journal Compilation © 2018 Acta Dermato-Venereologica.