FaCD Online Syndrome Fact Sheet

Last updated: 14 Feb 2008

Name: Chronic Mucocutaneous Candidiasis syndrome

Synonym: CMC syndrome

Mode of Inheritance: AR?/ AD?/ multifact?/ spor

Tumor features

esophagus, squamous cell cancer of the
intraoral squamous cell cancer

Tumor features (possible)

thymoma

Non-tumor features

candidiasis

Comment

Chronic candida infection of skin nails and mucous membranes, usually with onset in childhood, has been observed in several familial cases, some of which are suggestive of autosomal dominant or recessive inheritance. [1;2]. In rare cases the disorder is complicated by deep fungal infection[3]. The chronic infection is presumed to be caused by an underlying defect in the immune system[4;5]. Chronic mucocutaneous candidiasis (CMC) is genetically heterogeneous and several subtypes have been recognized[6;7]. Coleman et al.[7] recently observed the association of CMC with hypothyroidism in successive affected generations, which they concluded was different from another CMC subtype associated with hypothyroidism APECED). Oral cancer and esophageal cancer may develop as an oncological complication[8,9] and an association with thymomas has also been noted.

References

[1] Morrison JGL, Anderson R. Familial chronic mucocutaneous andidiasis successfully treated with oral ketoconazole. S Afr Med J 1981; 14:237-239.
[2] Tosti A, Piraccini BM, Vincenzi C, Cameli N. Itraconazole in the treatment of two young brothers with chronic mucocutaneous candidiasis. Pediatr Dermatol 1997; 14(2):146-148.
[3] Germain M, Gourdeau M, Hebert J. Case report: familial chronic mucocutaneous candidiasis complicated by deep candida infection. Am J Med Sci 1994; 307(4):282-283.
[4] Lilic D, Cant AJ, Abinun M, Calvert JE, Spickett GP. Chronic mucocutaneous cancidiasis.I. Altered antigen-stimulated IL-2,IL-4,IL-6 and interferon-gamma (IFN-y) production. Clin Exp Immunol 1996; 105:205-212.
[5] Lilic D, Calvert JE, Cant AJ, Abinun M, Spickett GP. Chronic mucocutaneous candidiasis.II.class and subclass of specific antibody responses in vivo and in vitro. Clin Exp Immunol 1996; 105:213-219.
[6] Kirkpatrick CH. Chronic mucocutaneous candidiasis. J Am Acad Dermatol 1994; 31(3 part 2):S14-S17.
[7] Coleman R, Hay RJ. Chronic mucocutaneous candidosis associated with hypothyroidism: a distinct syndrome? Br J Dermatol 1997; 136:24-29.
[8] McGurk M, Holmest M. Chronic muco-cutaneous candidiasis and oral neoplasia. J Laryng otol 1988; 102:643-645.
[9] Rosa DD, Pasqualotto AC, Denning DW. Chronic mucocutaneous candidiasis and oesophageal cancer.