CHRONIC MUCOCUTANEOUS CANDIDIASIS SYNDROME
This is a rare condition characterized by chronic and recurrent Candida infections of the skin, nails, and oropharynx from early childhood. There may be an underlying immune defect. In over 50 % of cases, there is associated endocrine disease. Several examples of familial chronic mucocutaneous candidiasis syndrome have been recorded, some showing an autosomal recessive and some an autosomal dominant mode of transmission; some cases are not associated with endocrinopathy (Buzzi et al. 2003). Late-onset cases may be sporadic. The condition can predispose to malignancy, especially of the oropharynx. The Candida endocrinopathy syndrome includes hypoparathyroidism, hypothyroidism, hypoadrenocorticism, and diabetes, usually autosomal recessive in inheritance (Ahonen 1985; Coleman and Hay 1997; Buzzi et al. 2003; Myhre et al. 2004). Vertical transmission of the syndrome with hypothyroidism has been described (Kirkpatrick 1994), and a syndrome of immune deficit, mucocutaneous candidiasis, and thyroid disease has been mapped to chromosome 2p in one family. A germline mutation in the AIRE gene has been described in a patient with this condition and muscular atrophy (Sato et al. 2002). An immune deficit causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family. The autosomal recessive form of familial chronic mucocutaneous candidiasis (CANDF2) is caused by mutation in the CARD9 gene on chromosome 9q34 (Glocker et al. 2009). Autosomal dominant candidiasis (CANDF1) maps to chromosome 2p, CANDF2 is caused by mutations in the CARD9 gene on chromosome 9q34.3, CANDF3 (restricted to nails of the hands and feet) maps to chromosome 11, CANDF4 is caused by mutations in the CLEC7A gene on chromosome 12p13.2-p12.3, CANDF5 by mutations in the IL17RA gene on chromosome 22q11, and CANDF6 by mutations in the IL17F gene on chromosome 6p12. Familial chronic nail candidiasis has been described with ICAM-1 deficiency with autosomal recessive inheritance (Zuccurello et al. 2002).