Literature DB >> 19778308

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

D Koch1, D Lilic, A J Carmichael.   

Abstract

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.

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Year:  2009        PMID: 19778308     DOI: 10.1111/j.1365-2230.2009.03561.x

Source DB:  PubMed          Journal:  Clin Exp Dermatol        ISSN: 0307-6938            Impact factor:   3.470


  3 in total

Review 1.  Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis.

Authors:  Anne Puel; Sophie Cypowyj; László Maródi; Laurent Abel; Capucine Picard; Jean-Laurent Casanova
Journal:  Curr Opin Allergy Clin Immunol       Date:  2012-12

2.  A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.

Authors:  Jakob Nielsen; Emil Kofod-Olsen; Eva Spaun; Carsten S Larsen; Mette Christiansen; Trine Hyrup Mogensen
Journal:  BMJ Case Rep       Date:  2015-10-22

3.  Association of esophageal candidiasis and squamous cell carcinoma.

Authors:  C E Delsing; C P Bleeker-Rovers; F L van de Veerdonk; J Tol; J W M van der Meer; B J Kullberg; M G Netea
Journal:  Med Mycol Case Rep       Date:  2012-03-01
  3 in total

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