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Chronic mucocutaneous candidiasis

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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]

Chronic mucocutaneous candidiasis
Other namesCMC[1]
SpecialtyInfectious diseases, dermatology
SymptomsSkin ulcer[2]
TypesCANDF1,2,3,4,5,6,7,8 and 9j
Diagnostic methodThyroid function test, Liver function test[3][4]
TreatmentSystemic antifungal therapy[4]

Types

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Type OMIMα 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

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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

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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

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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

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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

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

Treatment

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Fluconazole

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

See also

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Notes

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

References

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  1. ^ 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)
  2. ^ 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.
  3. ^ 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.
  4. ^ 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.
  5. ^ James, William D.; Berger, Timothy G. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
  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.
  7. ^ 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.
  8. ^ "OMIM Entry - % 114580 - CANDIDIASIS, FAMILIAL, 1; CANDF1". omim.org. Archived from the original on 31 March 2021. Retrieved 9 June 2017.
  9. ^ a b Reference, Genetics Home. "familial candidiasis". Genetics Home Reference. Archived from the original on 2017-06-27. Retrieved 2017-06-09.
  10. ^ 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.
  11. ^ 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.

Further reading

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Scholia has a topic profile for Chronic mucocutaneous candidiasis.
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