Chronic mucocutaneous candidiasis

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Chronic mucocutaneous candidiasis
Other namesCMC
Infectious 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]

Chronic mucocutaneous candidiasis is an

human papilloma virus. An association with chromosome 2 has been identified.[medical citation needed
]

Types

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

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 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

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)
    Stat1(CANDF7 mutation on Chromosome 2q32)
  • CHR 2
    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

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

Notes

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

References

  1. ^ a b RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Chronic mucocutaneous candidiasis". www.orpha.net. 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. Retrieved 2017-06-09.
  4. ^ a b c d e "Chronic Mucocutaneous Candidiasis: Background, Pathophysiology, Epidemiology". Medscape. 3 May 2017. Retrieved 8 June 2017.
  5. ISBN 978-0-7216-2921-6
    .
  6. 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. Retrieved 9 June 2017.
  9. ^ a b Reference, Genetics Home. "familial candidiasis". Genetics Home Reference. Retrieved 2017-06-09.
  10. PMID 23629947
    .
  11. ISBN 9783319436302
    .

Further reading

External links

Scholia has a topic profile for Chronic mucocutaneous candidiasis.
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