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Chronic mucocutaneous candidiasis
Chronic mucocutaneous candidiasis
Other names	CMC
Specialty	Infectious diseases, dermatology
Symptoms	Skin ulcer
Types	CANDF1,2,3,4,5,6,7,8 and 9j
Diagnostic method	Thyroid function test, Liver function test
Treatment	Systemic antifungal therapy

Chronic mucocutaneous candidiasis is an immune disorder of T cells.^[4] It is characterized by chronic infections with Candida that are limited to mucosal surfaces, skin, and nails.^[5]^: 310 It can also be associated with other types of infections, such as human papilloma virus. An association with chromosome 2 has been identified.^{[medical citation needed]}

Types

Type	OMIM^α	Gene	Locus
CANDF1	114580	-	2p
CANDF2	212050	CARD9	9q34.3
CANDF3	607644	-	11
CANDF4	613108	CLEC7A	12p13.2-p12.3
CANDF5	613953	IL17RA	22q11
CANDF6	613956	IL17F	6p12
CANDF7	614162	STAT1	2q32
CANDF8	615527	TRAF3IP2	6q21
CANDF9	616445	IL17RC	3q25

Signs and symptoms

The signs and symptoms of this condition are thickened skin, skin ulcer, dyspareunia, endocardium abnormality, vision problems, hepatitis, seizures, bloody urine, and meningitis.^[2]

Associated diseases or conditions

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)^{[citation needed]}. 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.^[6]

Patients with autosomal-dominant mucocutaneous candidiasis may be at risk for epidermoid esophageal cancer due to the nitrosamine compounds produced by chronic candida infections.^{[citation needed]}^[7]

Cause

Chronic mucocutaneous candidiasis can be inherited either autosomal dominant or autosomal recessive.^[1] There are 9 types of this condition with the first CANDF1 being located at 2p22.3-p21 (cytogenetically).^[8]

Mechanism

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.^[9]

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.^[9]^[10]

Stat1(CANDF7 mutation on Chromosome 2q32)
CHR 2

Diagnosis

Chronic mucocutaneous candidiasis can be diagnosed in an affected individual via the following methods/tests:^[3]^[4]

Thyroid function test
Liver function test
Cellular immunity test
Skin biopsy
Genetic testing

Treatment

Management for an individual with chronic mucocutaneous candidiasis consists of the following (relapse occurs once treatment is ceased, in many cases):^[4]^[11]

Systemic anti-fungal therapy (e.g., Fluconazole)
Transfer factor
Combination therapy
Screening (annually)

Notes

^ Indicates 9 references to specific, numbered pages in the Online Mendelian Inheritance in Man database.

References

^ ^a ^b RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Chronic mucocutaneous candidiasis". www.orpha.net. Archived from the original on 2017-07-14. Retrieved 2017-06-09.{{cite web}}: CS1 maint: numeric names: authors list (link)
^ ^a ^b "Candidiasis familial chronic mucocutaneous, autosomal recessive | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2018-04-17. Retrieved 2017-06-09.
^ ^a ^b "Familial chronic mucocutaneous candidiasis - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 2018-05-26. Retrieved 2017-06-09.
^ ^a ^b ^c ^d ^e "Chronic Mucocutaneous Candidiasis: Background, Pathophysiology, Epidemiology". Medscape. 3 May 2017. Archived from the original on 10 June 2017. Retrieved 8 June 2017.
^ James, William D.; Berger, Timothy G. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
^ Kirkpatrick, Charles H. (February 2001). "Chronic mucocutaneous candidiasis". The Pediatric Infectious Disease Journal. 20 (2): 197–206. doi:10.1097/00006454-200102000-00017. PMID 11224843.
^ Rosa DD, Pasqualotto AC, Denning DW. Chronic mucocutaneous candidiasis and oesophageal cancer. Med Mycol. 2008 Feb;46(1):85-91. doi: 10.1080/13693780701616023. PMID 17852718.
^ "OMIM Entry - % 114580 - CANDIDIASIS, FAMILIAL, 1; CANDF1". omim.org. Archived from the original on 31 March 2021. Retrieved 9 June 2017.
^ ^a ^b Reference, Genetics Home. "familial candidiasis". Genetics Home Reference. Archived from the original on 2017-06-27. Retrieved 2017-06-09.
^ Smeekens, Sanne P; van de Veerdonk, Frank L; Kullberg, Bart Jan; Netea, Mihai G (2013). "Genetic susceptibility to Candida infections". EMBO Molecular Medicine. 5 (6): 805–813. doi:10.1002/emmm.201201678. ISSN 1757-4676. PMC 3779444. PMID 23629947.
^ Teng, Joyce; Marqueling, Ann L.; Benjamin, Latanya (2016-12-15). Therapy in Pediatric Dermatology: Management of Pediatric Skin Disease. Springer. p. 265. ISBN 9783319436302. Archived from the original on 2023-01-12. Retrieved 2020-12-09.