Chronic mucocutaneous candidiasis is a rare disorder that is characterised by chronic or recurrent superficial candida infection of skin, nails, and mucous membranes. We describe such a case in a young boy who failed to respond to conventional therapy. It highlights the important role of the dental team in assessment, treatment, and onwards referral.
Chronic mucocutaneous candidiasis (CMC) is a rare heterogeneous group of primary immunodeficiency diseases that are characterised by a difficulty to clear fungal infections, with subsequent chronic or recurrent superficial infection of skin, nails and mucous membranes usually by Candida albicans. A total of 60%-%-80% of cases develop in infancy but it can present in adulthood. Candida species are commensal yeasts that form part of the oral microbiome in up to 80% of healthy individuals. Chronic or recurrent candidiasis beyond infancy is rare and systemic comorbidities such as primary immunodeficiency should be considered.
Whilst the underlying mechanism is complex, CMC is associated with a defect in T helper 17 (Th17) cell immunity or disruption to cytokines IL-17 and IL-22. It is also associated with defects involved in candida recognition, Th17 differentiation (such as STAT1 mutation) and IL-17 signalling.
We describe a 3-year-old boy who presented to the multidisciplinary Paediatric Dentistry and Oral Medicine clinic diagnosed with a STAT1-gain of function (STAT1-GOF) mutation (OMIM 614162).
A 3-year-old boy was referred with recurrent oral candidiasis that had been unresponsive to nystatin oral suspension and miconazole oral gel. His mother reported a history of recurrent oral candidiasis since birth, in the form of thick white plaques, which had impacted on his ability to eat comfortably. Recurrent blister-like lesions involving the perioral skin were also documented. The history was positive for one episode of perineal candidiasis, but there was no other medical history of note. Family history showed a history of recurrent oral candidiasis in the patient’s maternal aunt, grandmother, grandmother’s sister and grandmother’s niece.
On examination, there were golden crusted lesions of the perioral skin with angular cheilitis ( Fig. 1 ). Intraorally, there were extensive pseudomembraneous plaques involving all mucosal surfaces ( Fig. 2 ).