Chronic mucocutaneous candidiasis

Types

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.

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). 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.

Patients with autosomal-dominant mucocutaneous candidiasis may be at risk for epidermoid esophageal cancer due to the nitrosamine compounds produced by chronic candida infections.

Cause

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

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.

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.

File:Stat1 stucture.png|Stat1(CANDF7 mutation on Chromosome 2q32) File:Chromosome 2.jpeg|CHR 2

Diagnosis

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

• 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):

• 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

References

1. (3 May 2017). "Chronic Mucocutaneous Candidiasis: Background, Pathophysiology, Epidemiology".
2. James, William D.. (2006). "Andrews' Diseases of the Skin: clinical Dermatology". Saunders Elsevier.
3. "Candidiasis familial chronic mucocutaneous, autosomal recessive {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
4. Kirkpatrick, Charles H.. (February 2001). "Chronic mucocutaneous candidiasis". The Pediatric Infectious Disease Journal.
5. 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.
6. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Chronic mucocutaneous candidiasis".
7. "OMIM Entry - % 114580 - CANDIDIASIS, FAMILIAL, 1; CANDF1".
8. Reference, Genetics Home. "familial candidiasis".
9. Smeekens, Sanne P. (2013). "Genetic susceptibility to Candida infections". EMBO Molecular Medicine.
10. "Familial chronic mucocutaneous candidiasis - Conditions - GTR - NCBI".
11. Teng, Joyce. (2016-12-15). "Therapy in Pediatric Dermatology: Management of Pediatric Skin Disease". Springer.