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Familial chronic mucocutaneous candidiasis(CANDF4)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: CANDF4; Candidiasis familial chronic mucocutaneous, autosomal recessive; Candidiasis, familial, 4; Candidiasis, familial, 4, autosomal recessive
SNOMED CT: Familial chronic mucocutaneous candidiasis (235073000); FCMC - Familial chronic mucocutaneous candidosis (235073000); FCMC - Familial chronic mucocutaneous candidiasis (235073000); Familial chronic mucocutaneous candidosis (235073000)
Gene (location): CLEC7A (12p13.2)
Monarch Initiative: MONDO:0013140
OMIM®: 613108


Familial candidiasis is an inherited tendency to develop infections caused by a type of fungus called Candida. Affected individuals typically have infections of the skin, the nails, and the moist lining of body cavities (mucous membranes). These infections are recurrent and persistent, which means they come back repeatedly and can last a long time. This pattern of infection is called chronic mucocutaneous candidiasis.

Candida is commonly present on the skin and on the mucous membranes, and in most people usually causes no health problems. However, certain medications (such as antibiotics and corticosteroids) and other factors can lead to occasional overgrowth of Candida (candidiasis) in the mouth (where it is known as thrush) or in the vagina. These episodes, commonly called yeast infections, usually last only a short time before being cleared by a healthy immune system.

Most people with familial candidiasis have chronic or recurrent yeast infections that begin in early childhood. Skin infections lead to a rash with crusty, thickened patches; when these patches occur on the scalp, they can cause loss of hair in the affected area (scarring alopecia). Candidiasis of the nails can result in thick, cracked, and discolored nails and swelling and redness of the surrounding skin. Thrush and gastrointestinal symptoms such as bloating, constipation, or diarrhea are common in affected individuals. Women with familial candidiasis can develop frequent vaginal yeast infections, and infants can have yeast infections on the skin that cause persistent diaper rash.

Depending on the genetic change involved in this condition, some affected individuals are at risk for developing systemic candidiasis, a more severe condition in which the infection spreads through the bloodstream to various organs including the brain and the meninges, which are the membranes covering the brain and spinal cord. Systemic candidiasis can be life-threatening.

Chronic or recurrent yeast infections can occur in people without familial candidiasis. Some individuals experience recurrent candidiasis as part of a general susceptibility to infections because their immune systems are impaired by a disease such as acquired immune deficiency syndrome (AIDS) or severe combined immunodeficiency (SCID), medications, or other factors. Other individuals have syndromes such as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or autosomal dominant hyper-IgE syndrome (AD-HIES) that include a tendency to develop candidiasis along with other signs and symptoms affecting various organs and systems of the body. [from MedlinePlus Genetics]

Clinical features

From HPO
MedGen UID:
Concept ID:
Disease or Syndrome
A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.
Recurrent vulvovaginal candidiasis
MedGen UID:
Concept ID:
Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.

Recent clinical studies


Morrison JG, Anderson R
S Afr Med J 1981 Feb 14;59(7):237-9. PMID: 6256921


Morrison JG, Anderson R
S Afr Med J 1981 Feb 14;59(7):237-9. PMID: 6256921

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