| Chronic mucocutaneous candidiasis | |
| Synonyms: | CMC |
| Field: | Infectious diseases, dermatology |
| Symptoms: | Skin ulcer |
| Types: | CANDF1,2,3,4,5,6,7,8 and 9j |
| Diagnosis: | Thyroid function test, Liver function test |
| Treatment: | Systemic antifungal therapy |
Chronic mucocutaneous candidiasis is an immune disorder of T cells.[1] It is characterized by chronic infections with Candida that are limited to mucosal surfaces, skin, and nails.[2] It can also be associated with other types of infections, such as human papilloma virus. An association with chromosome 2 has been identified.
| Type | OMIM | Gene | Locus | |
|---|---|---|---|---|
| CANDF1 | - | 2p | ||
| CANDF2 | CARD9 | 9q34.3 | ||
| CANDF3 | - | 11 | ||
| CANDF4 | CLEC7A | 12p13.2-p12.3 | ||
| CANDF5 | IL17RA | 22q11 | ||
| CANDF6 | IL17F | 6p12 | ||
| CANDF7 | STAT1 | 2q32 | ||
| CANDF8 | TRAF3IP2 | 6q21 | ||
| CANDF9 | IL17RC | 3q25 |
The signs and symptoms of this condition are thickened skin, skin ulcer, dyspareunia, endocardium abnormality, vision problems, hepatitis, seizures, bloody urine, and meningitis.[3]
There are a number of disorders associated with chronic mucocutaneous candidiasis including endocrine dysfunctions, vitiligo, malabsorption syndromes, neoplasms, and others. In most patients, chronic mucocutaneous candidiasis is correlated to abnormalities in cell-mediated immunity (T-lymphocyte mediated response). The T-lymphocytes fail to produce the necessary cytokines that are required for immunity against Candida. Current effective treatments include anti-fungal drugs and, for long-term remissions, restoration of cellular immunity.[4]
Patients with autosomal-dominant mucocutaneous candidiasis may be at risk for epidermoid esophageal cancer due to the nitrosamine compounds produced by chronic candida infections.[5]
Chronic mucocutaneous candidiasis can be inherited either autosomal dominant or autosomal recessive.[6] There are 9 types of this condition with the first CANDF1 being located at 2p22.3-p21 (cytogenetically).[7]
The mechanism the human immune system has is normally to fight an infection (like Candida). Initially, Th17 cells are made by the immune system, which in turn produces interleukin-17 (IL-17). This induces inflammation and white blood cells confront infection.[8]
Chronic mucocutaneous candidiasis mutations affect IL-17 by inhibiting its pathway. This in turn affects the human immune system's ability to fight infection, in total there are 9 possible types of this condition.[8] [9]
Chronic mucocutaneous candidiasis can be diagnosed in an affected individual via the following methods/tests:[10] [1]
Management for an individual with chronic mucocutaneous candidiasis consists of the following (relapse occurs once treatment is ceased, in many cases):[1] [11]
Indicates 9 references to specific, numbered pages in the Online Mendelian Inheritance in Man database.