Chronic mucocutaneous candidiasis (CMCC) is a heterogeneous group of syndromes with common features including chronic noninvasive Candida infections of the skin, nails, and mucous membranes and associated autoimmune manifestations (most commonly endocrinopathies). It is caused by genetic faults in the immune system.
An overview of CMCC is given and the pathogenesis and clinical manifestations of identified genetic defects leading to CMCC are reviewed here. The differential diagnosis and treatment of CMCC are also discussed. A general discussion of Candida infections and their clinical manifestations are presented separately. (See "Overview of Candida infections" and "Overview of Candida infections in children" and "Clinical manifestations of oropharyngeal and esophageal candidiasis".)
CMCC was first described in 1929 by Thorpe and Handley [1,2] followed by a more extensive description in the fifties and sixties [3-5]. CMCC traditionally referred to a heterogeneous group of patients who suffered persistent noninvasive Candida infections of the skin, mucous membranes, and nails as well as autoimmune manifestations, most commonly involving the endocrine system.
Mutations in the autoimmune regulator (AIRE) gene lead to CMCC in distinct populations, such as the Finns and Sardinians [6,7]. However, the majority of patients with CMCC outside of these ethnic groups do not carry mutations in this gene. Most papers related to CMCC were published prior to the discovery of AIRE, making it impossible to correlate phenotypes with the AIRE genotype in most publications.
Progress in techniques that will allow for whole genome sequencing as well as development of novel bioinformatic models should improve our understanding of the genetic causes of CMCC. These methodologies should also unravel phenotype diversity in classical Mendelian inherited disorders, such as AIRE deficiency. Fundamental questions, such as why these patients are susceptible to infections with Candida, are just beginning to be answered.