Chronic mucocutaneous candidiasis

What is it chronic mucocutaneous Candidiasis?

Chronic mucocutaneous candidiasis is a rare genetic condition that occurs in childhood that affects the skin, nail and mucous membrane sites. It is characterized by persistent and extended candida infection. Also called chronic mucocutaneous candidiasis.

What Causes Chronic Mucocutaneous Candidiasis?

Chronic mucocutaneous candidiasis is due to primary immunodeficiency. It is associated with several syndromes and laboratory abnormalities.

• There's a genetic predisposition with anyone autosomal dominant inheritance (an abnormal gene inherited from a parent) or autosomal recessive inheritance (an abnormal gene inherited from each parent).
• Autosomal dominant chronic mucocutaneous candidiasis is associated with gain of function STAT1 mutations resulting in IL-17 deficiency.
• Chronic mucocutaneous candidiasis is associated with certain endocrine conditions: hypoparathyroidism, hypothyroidism, hypoadrenalism, diabetes mellitus (autoimmune type 1 poliendocrinopathy, or APECED syndrome, in which there is a mutation of the AIR gene).
• It is also associated with immune defects, including malfunction T lymphocytes and low levels of immunoglobulin.

In rare cases, chronic mucocutaneous candidiasis develops in adult life. This is often as a result of a thymoma (tumor thymus gland) and is associated with internal diseases such as myasthenia gravis or myositisor bone marrow defects such as aplastic anemia, neutropenia and hypogammaglobulinemia.

Human immunodeficiency virus (HIV) Infection and hyper-IgE syndrome can also present with chronic mucocutaneous candidiasis.

Clinical characteristics of chronic mucocutaneous candidiasis.

Chronic mucocutaneous candidiasis usually presents before the age of 3 years, with one or more of the following:

• Chronic oral candidiasis (thrush)
• Napkin (diaper) dermatitis
• Paronychia and candidal onychomycosis (infection of the nails)
• With widespread scab plates on the scalp, trunk, hands and feet
• Scars alopecia (hair lost)
• Granulomas in the mouth, on the skin and / or nails
• Stenosis of the esophagus, larynx or vagina

• Lack of iron.

Affected patients are also susceptible to infection with dermatophyte fungi (ringworm) and human papillomavirus (warts).

Complications of chronic mucocutaneous candidiasis

Chronic mucocutaneous candidiasis can lead to premature death due to disseminated candida infection, septicemia, pneumonia or fungal aneurysms.

Patients are at increased risk of skin. Cancerand ear, nose and esophageal cancers

How is chronic mucocutaneous candidiasis diagnosed?

The diagnosis of chronic mucocutaneous candidiasis is made on clinical grounds.

Microscopy and culture swabs and skin scrapings confirm the presence of organisms.

Genetic testing can reveal a specific mutation.

How is chronic mucocutaneous candidiasis treated?

The underlying defect is not yet treatable.

General measures

To reduce the incidence and severity of candida infection:

• Practice good oral hygiene (tooth brushing, mouthwash, mouthwashes)
• Avoid smoking and alcohol.

Antifungal treatment

Treatment depends on repeated or long courses of oral antifungal medications, often in higher doses than is normally necessary for candida infections. Oral antifungal medications used for chronic mucocutaneous candidiasis include:

• Fluconazole
• Itraconazole
• Posaconazole

• Voriconazole

• Amphotericin B Liposomal

• Terbinafine (generally used to treat ringworm infections)

• Echinocandins (caspofungin, micafungin, anidulafungin).

Drug resistance may occur.

Immunological therapy

Options to improve immune status include:

• Transfer factor
• JAK1 / 2 tyrosine kinase inhibitors, such as ruxolitinib

• Intravenous Immunoglobulin G (IVIg G)

• Granulocytes–macrophage Colony Stimulating Factor (GM-CSF) Infusions

• Interferon-α.

Evaluation and treatment of associates endocrinopathies should be carried out in consultation with a endocrinologist.