Alport Syndrome and Oral Mucous Membrane Pemphigoid: An Interesting Case

Abstract

Alport syndrome (AS) is a hereditary progressive glomerular disease associated with sensorineural hearing loss and ocular abnormalities. It is attributed to the altered structure and the subsequent dysfunction of the glomerular basement membrane (GBM) due to the mutated type IV collagen a3/a4/a5 chains. It may emerge either as an X-linked disease, the most common, or as an autosomal disease, both recessive and dominant. A female patient, 26 years old, came in 2023 to the Department of Oral Medicine/ Pathology, Dental School, Aristotle University of Thessaloniki, complaining about pain and a burning sensation in her right cheek. Her medical history revealed the diagnosis of Alport syndrome in 2016 and kidney transplantation in 2022 with extensive post-transplantation drug administration. The clinical examination revealed an ulcer, partially covered by a pseudomembrane, on the oral mucosa of the right cheek, surrounded by an erythematous border. A biopsy was taken, and the histopathological examination showed the oral manifestation of mucous membrane pemphigoid. After communicating with the attending nephrologist, the prescription of methylprednisolone was decided, and the lesions receded. The differential diagnosis included both AS-induced pemphigoid and drug-induced pemphigoid. The thorough medical history, detailed clinical investigation, lesion biopsy, and collaboration of different dental and medical specialties constitute necessary prerequisites for a successful treatment, even in immunosuppressed patients.

Keywords: alport syndrome; drug induced bullous pemphigoid; end stage kidney disease (eskd); immuno suppressant; mucous membrane pemphigoid.

Figure 1. Clinical images from the bilateral lesions on the buccal mucosa.

A: left buccal mucosa/ initial condition, B: left buccal mucosa/ after 3 weeks, C: left buccal mucosa/ after 6 weeks, D: right buccal mucosa/ initial condition, E: right buccal mucosa/ after 3 weeks, F: right buccal mucosa/ after 6 weeks.