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Chronic Mucocutaneous Candidiasis

By James Fernandez, MD, PhD

Chronic mucocutaneous candidiasis, a hereditary immunodeficiency disorder, is persistent or recurring infection with Candida (a fungus) due to malfunction of T cells (lymphocytes).

Because T cells malfunction, the body is less able to fight fungal infections, including infection with Candida (candidiasis—see 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 one of two specific genes. Depending on which gene has the mutation, one or two mutations (one from each parent) may be needed to cause the disorder.

Candidal infections develop and 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 may also be infected. In infants, the first symptoms are often thrush that is difficult to treat, diaper rash, or both. Severity varies. The disorder 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 endocrine disorders, such as underactive parathyroid glands (hypoparathyroidism), diabetes, and underactive adrenal glands (Addison disease), as well as hepatitis and autoimmune disorders, such as Graves disease.

Doctors suspect Candida infection when people have the characteristic skin changes. Examining a sample from the infected area under a microscope and identifying the yeast can help. Doctors suspect that people have an underlying autoimmune disorder if they do not have common risk factors for Candida infection, such as diabetes or recent use of antibiotics. 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.

Endocrine and autoimmune disorders are treated as needed.

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