Autosomal dominant familial chronic mucocutaneous candidiasis.

Abstract

CMCC is a rare disease characterized by chronic-recurrent infections mainly caused by C. albicans; infections affecting skin, mucous membranes and nails do not give systemic manifestations. There are inherited family forms and unfamilial forms (1). Hereditary forms may be autosomal dominant or recessive. The genetic basis of the dominant autosomal forms has been identified in STAT1 mutations (signal transducer and activator transcription 1) that reduce the Th1 and Th17 response and thus the defense against fungal infections (2).
The severity of the autosomal dominant forms is very variable; often these are forms compatible with an almost normal life. Also the sensitivity to the therapy is variable: next to forms that recede shortly after the suspension of oral imidazoles there are forms that after the first cycle of treatmentl remain free of lesions for years.