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Chronic Mucocutaneous Candidiasis
(See also Overview of Immunodeficiency Disorders.)
Chronic mucocutaneous candidiasis, a hereditary immunodeficiency disorder, is persistent or recurring infection with Candida (a fungus) due to malfunction of T cells (lymphocytes).
Chronic mucocutaneous candidiasis causes frequent or chronic fungal infections of the mouth, scalp, skin, and nails.
To diagnose the disorder, doctors examine a sample from the infected area under a microscope and do blood tests to check for the mutations that cause it.
Antifungal drugs can usually control the infection, but they must be taken for a long time.
Because T cells malfunction, the body is less able to fight fungal infections, including infection with Candida (candidiasis), a yeast. If other parts of the immune system (such as antibodies) are functioning, the body may still be able to fight against other infections. However, in some people with this disorder, antibodies also malfunction, making these people susceptible to other infections.
Chronic mucocutaneous candidiasis is due to a mutation in specific genes. Depending on which gene has the mutation, one or two mutations (one from each parent) may be needed to cause the disorder.
In people with chronic mucocutaneous candidiasis, candidal infections develop and recur or persist, usually beginning during infancy but sometimes during early adulthood.
The fungus may cause mouth infections (thrush) and infections of the scalp, skin, and nails. Membranes lining the mouth, eyelids, digestive tract, and vagina (vaginal yeast infection) may also be infected.
In infants, the first symptoms are often thrush that is difficult to treat, diaper rash, or both. Severity varies.
Chronic mucocutaneous candidiasis may cause one or more nails to thicken, crack, and become discolored. A disfiguring rash may cover the face and scalp. The rash is crusted and thick and may ooze. On the scalp, the rash may cause hair to fall out.
Usually, this disorder is chronic, but it does not affect life span.
Many people also have the following:
Doctors suspect Candida infection when people frequently have mouth, scalp, skin, and nail infections with the characteristic skin changes. Examining a sample from the infected area under a microscope and identifying the yeast can confirm that a Candida infection is the cause.
Because people without an immunodeficiency disorder occasionally develop Candida infection, doctors then check for common risk factors for Candida infection, such as diabetes or recent use of antibiotics. If people with frequent Candida infections have no risk factors for Candida infections, the diagnosis is likely to be chronic mucocutaneous candidiasis.
Blood tests to check for a specific genetic mutation can confirm the diagnosis.
Usually, the infections can be controlled with an antifungal drug applied to the skin. If infections persist, they can be effectively treated with fluconazole or another similar antifungal drug taken by mouth. Drugs may have to be taken for a long time.
Immune globulin (antibodies obtained from the blood of people with a normal immune system) is sometimes given. It may be injected into a vein (intravenously) once a month or under the skin (subcutaneously) once a week or once a month.
Endocrine and autoimmune disorders are treated as needed.
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* This is the Consumer Version. *