By Gary M. White, MD
Destructive onychomycosis caused by Candida at a young age.
Chronic mucocutaneous candidiasis is a primary immune deficiency presenting as an inability to clear fungal infections, mostly Candida albicans. Multiple genetic causes have been found. There may be autosomal recessive, dominant or sporadic mode of inheritance. For example, gain of function mutations in signal transducer and activator of transcription 1 (STAT1) are associated with autosomal dominant chronic mucocutaneous candidiasis (CMC). Other examples include CARD9 deficiency, Dectin-1 mutation, as well as IL-17RA, IL-17, and ACT1-associated CMC [JAAD 2015;73;367–381]
Thrush, paronychia, cutaneous lesions and candidal onychomycosis are the typical clinical manifestations. Various abnormalities of the endocrinologic system are associated including hypoadrenalism, hypothyroidism, thymoma and hypoparathyroidism. Other candidal infections that affect the skin include neonatal candidiasis, congenital candidiasis and disseminated candidiasis.
Genetic counseling should be done. Treatment should be carried out in concert with an endocrinologist and an infectious disease specialist. Therapy is usually long term and directed at the specific manifestations. Oral agents effective against Candida include itraconazole (e.g. 100 mg/day).
5-year-old girl. Virtual Grand Rounds in Dermatology
An 18-year-old woman with Stat1 gain of function mutation. JAAD 2015;Volume 73, Issue 3, Pages 367–381.