Autosomal dominant chronic mucocutaneous candidiasis and primary hypothyroidism complicated by oesophageal carcinoma

被引:9
作者
Koch, D. [1 ]
Lilic, D. [2 ]
Carmichael, A. J. [1 ]
机构
[1] James Cook Univ Hosp, Dept Dermatol, Middlesbrough, Cleveland, England
[2] Newcastle Univ, Inst Cellular Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
关键词
SQUAMOUS-CELL CARCINOMA; ECTODERMAL DYSTROPHY; AUTOIMMUNE; DISEASE;
D O I
10.1111/j.1365-2230.2009.03561.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
We describe three generations of a white family with autosomal dominant chronic mucocutaneous candidiasis (CMCC) and primary hypothyroidism, which was complicated by squamous cell carcinoma (SCC) of the oesophagus in the index case. We report this family to increase awareness of this rare autosomal dominant variant of CMCC endocrinopathy syndrome associated with primary hypothyroidism without evidence of autoimmune endocrinopathy, and to highlight the risk of developing oesophageal SCC at a young age as a fatal complication of CMCC.
引用
收藏
页码:E818 / E820
页数:3
相关论文
共 9 条
[1]   AN AUTOSOMAL LOCUS CAUSING AUTOIMMUNE-DISEASE - AUTOIMMUNE POLYGLANDULAR DISEASE TYPE-I ASSIGNED TO CHROMOSOME-21 [J].
AALTONEN, J ;
BJORSES, P ;
SANDKUIJL, L ;
PERHEENTUPA, J ;
PELTONEN, L .
NATURE GENETICS, 1994, 8 (01) :83-87
[2]   An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family [J].
Atkinson, TP ;
Schäffer, AA ;
Grimbacher, B ;
Schroeder, HW ;
Woellner, C ;
Zerbe, CS ;
Puck, JM .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) :791-803
[3]   Chronic mucocutaneous candidosis associated with hypothyroidism: A distinct syndrome? [J].
Coleman, R ;
Hay, RJ .
BRITISH JOURNAL OF DERMATOLOGY, 1997, 136 (01) :24-29
[4]   Oral squamous cell carcinoma in a young person with candidosis endocrinopathy syndrome: A case report [J].
Firth, NA ;
OGrady, JF ;
Reade, PC .
INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY, 1997, 26 (01) :42-44
[5]  
Hay RJ, 2004, ROOKS TXB DERMATOLOG, V2
[6]   A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1 [J].
Pearce, SHS ;
Cheetham, T ;
Imrie, H ;
Vaidya, B ;
Barnes, ND ;
Bilous, RW ;
Carr, D ;
Meeran, K ;
Shaw, NJ ;
Smith, CS ;
Toft, AD ;
Williams, G ;
Kendall-Taylor, P .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (06) :1675-1684
[7]   Extensive clinical experience - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy [J].
Perheentupa, Jaakko .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (08) :2843-2850
[8]   Oral and oesophageal squamous cell carcinoma - A complication or component of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS-I) [J].
Rautemaa, Riina ;
Hietanen, Jarkko ;
Niissalo, Sirkku ;
Pirinen, Sinikka ;
Perheentupa, Jaakko .
ORAL ONCOLOGY, 2007, 43 (06) :607-613
[9]  
ROSA DD, 2007, MED MYCOL, V28, P1