Chronic mucocutaneous candidiasis

Chronic mucocutaneous candidiasis is an immune disorder of T cells,[3] it is characterized by chronic infections with Candida that are limited to mucosal surfaces, skin, and nails.[4]:310 It can also be associated with other types of infections, such as human papilloma virus. An association with chromosome 2 has been identified.

Chronic mucocutaneous candidiasis
Other namesCMC[1]
This condition is due to T-cells(immune) disorder
SpecialtyInfectious disease, dermatology 
TypesCANDF1,2,3,4,5,6,7,8 and 9j
Diagnostic methodThyroid function test, Liver function test[2][3]
TreatmentSystemic antifungal therapy[3]

Symptoms and signs

The symptoms of this condition are hyperkeratosis, skin ulcer, dyspareunia, endocardium abnormality, vision problems, hepatitis, seizures, hematuria and meningitis[5]

Cause

In terms of the cause of chronic mucocutaneous candidiasis one finds it 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)[6]

Mechanism

The mechanism of the human immune system has it normally fighting in an infection (like Candida). Initially Th17 cells are made by the immune system, which in turn produces interleukin-17 (IL-17). Inflammation is induced and white blood cells confront infection.[7]

Chronic mucocutaneous candidiasis mutations affect IL-17 by inhibiting its pathway. This in turn affects the human immune systems ability to fight infection, in total there are 9 possible types of this condition.[7][8]

Diagnosis

Chronic mucocutaneous candidiasis can be diagnosed in an affected individual via the following methods/tests:[2][3]

Stat1(CANDF7 mutation on Chromosome 2q32)

Types
CHR 2
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

Treatment
Fluconazole

Management for an individual with chronic mucocutaneous candidiasis consists of the following(relapse occurs once treatment is ceased, in many cases):[3][9]

See also

Notes

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

References
  1. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Chronic mucocutaneous candidiasis". www.orpha.net. Retrieved 2017-06-09.
  2. "Familial chronic mucocutaneous candidiasis - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-06-09.
  3. "Chronic Mucocutaneous Candidiasis: Background, Pathophysiology, Epidemiology". Medscape. 3 May 2017. Retrieved 8 June 2017.
  4. James, William D.; Berger, Timothy G. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
  5. "Candidiasis familial chronic mucocutaneous, autosomal recessive | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-06-09.
  6. "OMIM Entry - % 114580 - CANDIDIASIS, FAMILIAL, 1; CANDF1". omim.org. Retrieved 9 June 2017.
  7. Reference, Genetics Home. "familial candidiasis". Genetics Home Reference. Retrieved 2017-06-09.
  8. 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.
  9. Teng, Joyce; Marqueling, Ann L.; Benjamin, Latanya (2016-12-15). Therapy in Pediatric Dermatology: Management of Pediatric Skin Disease. Springer. p. 265. ISBN 9783319436302.

Further reading
Classification
External resources
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