Chronic mucocutaneous candidiasis

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Chronic mucocutaneous candidiasis
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Synonyms CMC
Pronounce N/A
Specialty N/A
Symptoms Recurrent candidiasis infections of the skin, nails, and mucous membranes
Complications Autoimmune disease, endocrinopathy
Onset Childhood or early adulthood
Duration Long-term
Types N/A
Causes Genetic mutations affecting the immune system
Risks Family history, genetic predisposition
Diagnosis Clinical evaluation, genetic testing
Differential diagnosis Primary immunodeficiency, HIV/AIDS, Diabetes mellitus
Prevention None
Treatment Antifungal medications, immunotherapy
Medication Fluconazole, Itraconazole
Prognosis Variable, depends on severity and response to treatment
Frequency Rare
Deaths N/A


Chronic mucocutaneous candidiasis (CMC) is a group of immune disorders characterized by recurrent or persistent infections caused by Candida species, primarily Candida albicans. These infections affect the mucous membranes, skin, and nails.

Etiology

CMC is primarily caused by genetic mutations that affect the immune system's ability to combat Candida infections. The most common mutations are in the STAT1 and CARD9 genes. These mutations lead to an impaired immune response, allowing Candida to proliferate unchecked.

Symptoms

Symptoms of CMC include persistent or recurrent infections of the skin, nails, and mucous membranes. These infections can cause symptoms such as redness, swelling, and discomfort. In severe cases, the infections can lead to disfigurement and disability.

Diagnosis

Diagnosis of CMC is based on the patient's medical history, physical examination, and laboratory tests. The laboratory tests typically involve culturing samples from the infected areas to identify the presence of Candida. Genetic testing may also be performed to identify mutations in the STAT1 or CARD9 genes.

Treatment

Treatment for CMC typically involves long-term antifungal therapy to control the Candida infections. In some cases, immunomodulatory therapy may also be used to boost the immune system's response to the infections.

Prognosis

The prognosis for individuals with CMC varies depending on the severity of the infections and the individual's overall health. With appropriate treatment, most individuals with CMC can lead normal lives. However, in severe cases, the infections can lead to serious complications and may be life-threatening.

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See also

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Contributors: Prab R. Tumpati, MD