Guocheng Qian,1 Jiaying Zhang,2 Leyao Shi,1 Dongmei Li,3 Biao Yang,4,5 Biao Chen,4 Dongmei Shi4,5 

1The Second Clinical Medical College, Shandong University of Traditional Chinese Medicine, Jinan, Shandong, People’s Republic of China; 2School of Clinical Medicine, Shandong Second Medical University, Weifang, Shandong, People’s Republic of China; 3Department of Microbiology & Immunology, Georgetown University Medical Center, Washington, DC, USA; 4Laboratory of Medical Mycology, Jining No. 1 People’s Hospital, Jining, Shandong Province, People’s Republic of China; 5Department of Dermatology, Jining No. 1 People’s Hospital, Jining, Shandong Province, People’s Republic of China

Correspondence: Biao Chen; Dongmei Shi, Laboratory of Medical Mycology, Jining No. 1 People’s Hospital, No. 6, Jiankang Road, Jining, Shandong Province, 272067, People’s Republic of China, Email cbjn@mail.jnmc.edu.cn; shidongmei28@163.com

Abstract: Chronic Mucocutaneous Candidiasis (CMC) is a rare immunodeficiency disease characterized by chronic or recurrent superficial Candida infections on the skin, nail, and mucous membranes. Here, we present four Chinese patients with CMC who manifested oral mucosal leukoplakia and nail thickening during early childhood, all displaying fissured tongue lines. The causative pathogens isolated from their oral mucosa and nails were identified as C. albicans and C. parapsilosis through morphology and molecular sequencing. Notably, among the four patients, one presented with vitiligo, while another had hypothyroidism. We have also conducted a review of reported cases of CMC in China and worldwide over the last five years, highlighting potential approaches for diagnosis and treatment. The current molecular evidence in the literature suggests potential for the development of early diagnosis methods, such as screening genetic variables on STAT1 and STAT3. Additionally, potential treatment avenues, including gene-targeted analogues and GM-CSF analogues, could be explored in conjunction with traditional antifungal therapy.

Keywords: chronic mucocutaneous candidiasis, Candida spp., diagnosis, treatment