PhD Scientific Days 2022

Clinical Medicine VII. (Poster discussion will take place in the Aula during the Coffee Break)

Clinical Manifestations of 28 Hungarian Patients with Genetically Determined Chronic Mucocutaneous Candidiasis

Text of the abstract

Introduction: Chronic mucocutaneous candidiasis (CMC) is a genetically heterogeneous group of primary immunodeficiency disorders characterised by chronic, recurrent, or therapy-resistant non-invasive skin, nail and mucous membrane infections caused by Candida. Syndromic forms of CMC are multisystemic and may also present with recurrent respiratory infections, autoimmune diseases, allergies, and skeletal malformations.
Aims: To determine the genetic and clinical characteristics of 28 Hungarian patients with CMC.
Methods: Patients underwent physical examination and the clinical, laboratory and genetic data were analysed.
Results: The identified mutations were in the genes AIRE (n=10), STAT3 (n=10), STAT1 (n=6) and DOCK8 (n=2). Out of the 28 patients, 78.6% (n=22) had fungal infections, of which onychomycosis, oropharyngeal and vulvovaginal candidiasis were most frequently observed. Furthermore, 46.4% (n=13) of patients had non-fungal infections. Cold abscesses were seen in 50% (n=5) of patients with STAT3 mutation. Skin and mucosal symptoms were displayed by 67.9% (n=19) of patients. Atopic dermatitis was most prevalent with 57.9% (n=11) patients. Other skin and mucosal symptoms occurred less frequently, including aphthous stomatitis, neonatal exanthema, alopecia, angular cheilitis, vitiligo, rosacea, hidradenitis suppurativa, melanoma, toxicoderma, acneiform lesions and erythematous lupus-like lesions. Respiratory symptoms occurred in 57.1% (n=16), of which recurrent respiratory infections were the most common. Job’s facies dominated the skeletal manifestations (n=8), with all 8 patients having STAT3 mutation. Haematological symptoms were present in 35.8% (n=10), anaemia being the most prevalent. Oesophageal scarring (n=4) was the most common gastrointestinal finding. Autoimmune diseases were noted in 9 patients, of which 8 had AIRE mutation, and one had STAT1. Food allergy was observed in 3 STAT3 and both patients with DOCK8 mutations.
Conclusion: In our patients, fungal infections and other non-fungal skin and mucosal symptoms dominate the phenotype of CMC, namely oropharyngeal mycosis, onychomycosis, bacterial skin infections, atopic dermatitis, and aphthous stomatitis. In addition, recurrent respiratory infections, anaemia, oesophageal scarring and autoimmune endocrinopathies were present.
Funding: EFOP-3.6.3-VEKOP-16-2017-00009