Medicine:Chronic mucocutaneous candidiasis

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Chronic mucocutaneous candidiasis
Other namesCMC[1]
Healthy Human T Cell.jpg
This condition is due to T-cells(immune) disorder
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]

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.

Types

Type OMIMα Gene Locus
CANDF1 Online Mendelian Inheritance in Man (OMIM) 114580 - 2p
CANDF2 Online Mendelian Inheritance in Man (OMIM) 212050 CARD9 9q34.3
CANDF3 Online Mendelian Inheritance in Man (OMIM) 607644 - 11
CANDF4 Online Mendelian Inheritance in Man (OMIM) 613108 CLEC7A 12p13.2-p12.3
CANDF5 Online Mendelian Inheritance in Man (OMIM) 613953 IL17RA 22q11
CANDF6 Online Mendelian Inheritance in Man (OMIM) 613956 IL17F 6p12
CANDF7 Online Mendelian Inheritance in Man (OMIM) 614162 STAT1 2q32
CANDF8 Online Mendelian Inheritance in Man (OMIM) 615527 TRAF3IP2 6q21
CANDF9 Online Mendelian Inheritance in Man (OMIM) 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]

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. ↑ 1.0 1.1 RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Chronic mucocutaneous candidiasis" (in en). http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1334. 
  2. ↑ 2.0 2.1 "Candidiasis familial chronic mucocutaneous, autosomal recessive | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" (in en). https://rarediseases.info.nih.gov/diseases/1077/index. 
  3. ↑ 3.0 3.1 "Familial chronic mucocutaneous candidiasis - Conditions - GTR - NCBI" (in en). https://www.ncbi.nlm.nih.gov/gtr/conditions/C0341024/. 
  4. ↑ 4.0 4.1 4.2 4.3 4.4 "Chronic Mucocutaneous Candidiasis: Background, Pathophysiology, Epidemiology". 3 May 2017. http://emedicine.medscape.com/article/1091928-overview. 
  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" (in en-us). https://omim.org/entry/114580. 
  9. ↑ 9.0 9.1 Reference, Genetics Home. "familial candidiasis" (in en). https://ghr.nlm.nih.gov/condition/familial-candidiasis#resources. 
  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. PMID 23629947. 
  11. ↑ Teng, Joyce; Marqueling, Ann L.; Benjamin, Latanya (2016-12-15) (in en). Therapy in Pediatric Dermatology: Management of Pediatric Skin Disease. Springer. p. 265. ISBN 9783319436302. https://books.google.com/books?id=m768DQAAQBAJ&q=chronic+mucocutaneous+candidiasis+treatment&pg=PA265. 

Further reading

External links

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