Chronic mucocutaneous candidiasis with severe oral injury associated with a STAT 1 gain-of-function mutation

Abstract

Introduction: Chronic mucocutaneous candidiasis (CMC) is characterized by the occurrence of chronic or recurrent infections caused by yeasts of the genus Candida. Infections can affect the skin and mucous membranes, mainly the oral mucosa. We report the case of a patient with CMC with recurrent oral damage associated with a heterozygous gain-of-function mutation in the STAT1 gene. Observation: A young Morrocan 30-year-old was referred to oral surgery department following the occurrence of recurrent oral ulcers leading to difficulty in tooth brushing and dysphagia. The patient had been followed since the age of 2 for mycobacterial and viral infections. Exome sequencing identified a heterozygous gain-of-function mutation in the STAT1 gene confirming the diagnosis of CMC with oral involvement. Comments: CMC usually starts in early childhood and can lead to fungal, bacterial and viral infections, as well as carcinomas. Mucosal-cutaneous fungal infections mainly affect the oral mucosa. Mutations in the gene encoding the signal transducer and activator of transcription protein-1 (STAT1) are the most commonly reported cause of CMC. The treatment is multidisciplinary. The goal is to treat Candida infection and its repercussions especially on the oral cavity.

Keywords

• Chronic mucocutaneous candidiasis
• Immunologic deficiency
• STAT 1 gain-of-function
• Glossitis
• Cheilitis