Chronic mucocutaneous candidiasis is an

immune disorder An immune disorder is a dysfunction of the immune system. These disorders can be characterized in several different ways: * By the component(s) of the immune system affected * By whether the immune system is overactive or underactive * By whether t ...

T cell A T cell is a type of lymphocyte. T cells are one of the important white blood cells of the immune system and play a central role in the adaptive immune response. T cells can be distinguished from other lymphocytes by the presence of a T-cell r ...

s. It is characterized by chronic infections with '' Candida'' that are limited to mucosal surfaces, skin, and nails. It can also be associated with other types of infections, such as

human papilloma virus Human papillomavirus infection (HPV infection) is caused by a DNA virus from the '' Papillomaviridae'' family. Many HPV infections cause no symptoms and 90% resolve spontaneously within two years. In some cases, an HPV infection persists and r ...

. An association with

chromosome 2 Chromosome 2 is one of the twenty-three pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs and representing almost e ...

has been identified.

Signs and symptoms

The signs and symptoms of this condition are thickened skin, skin ulcer, dyspareunia,

endocardium The endocardium is the innermost layer of tissue that lines the chambers of the heart. Its cells are embryologically and biologically similar to the endothelial cells that line blood vessels. The endocardium also provides protection to the v ...

abnormality, vision problems,

hepatitis Hepatitis is inflammation of the liver tissue. Some people or animals with hepatitis have no symptoms, whereas others develop yellow discoloration of the skin and whites of the eyes ( jaundice), poor appetite, vomiting, tiredness, abdominal ...

, seizures,

bloody urine Hematuria or haematuria is defined as the presence of blood or red blood cells in the urine. “Gross hematuria” occurs when urine appears red, brown, or tea-colored due to the presence of blood. Hematuria may also be subtle and only detectable ...

, 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 The immune system is a network of biological processes that protects an organism from diseases. It detects and responds to a wide variety of pathogens, from viruses to parasitic worms, as well as cancer cells and objects such as wood splint ...

has is normally to fight an infection (like ''Candida''). Initially,

Th17 T helper 17 cells (Th17) are a subset of pro-inflammatory T helper cells defined by their production of interleukin 17 (IL-17). They are related to T regulatory cells and the signals that cause Th17s to differentiate actually inhibit Treg different ...

cells are made by the immune system, which in turn produces

interleukin-17 Interleukin 17 family (IL17 family) is a family of pro-inflammatory cystine knot cytokines. They are produced by a group of T helper cell known as T helper 17 cell in response to their stimulation with IL-23. Originally, Th17 was identifie ...

(IL-17). This induces

inflammation Inflammation (from la, inflammatio) is part of the complex biological response of body tissues to harmful stimuli, such as pathogens, damaged cells, or irritants, and is a protective response involving immune cells, blood vessels, and molec ...

and

white blood cells White blood cells, also called leukocytes or leucocytes, are the cells of the immune system that are involved in protecting the body against both infectious disease and foreign invaders. All white blood cells are produced and derived from mult ...

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.

Diagnosis

Chronic mucocutaneous candidiasis can be diagnosed in an affected individual via the following methods/tests: Stat1 stucture

Types

450px, CHR 2

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 Fluconazole is an antifungal medication used for a number of fungal infections. This includes candidiasis, blastomycosis, coccidiodomycosis, cryptococcosis, histoplasmosis, dermatophytosis, and pityriasis versicolor. It is also used to pr ...

) :::::*

Transfer factor Transfer factors are essentially small immune messenger molecules that are produced by all higher organisms. Transfer factors were originally described as immune molecules that are derived from blood or spleen cells that cause antigen-specific ce ...

:::::*Combination therapy :::::*Screening (annually)

Notes

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

References

External links

{{Medicine Mycosis-related cutaneous conditions Defects in innate immunity IUIS-PID table 3 immunodeficiencies