Autosomal dominant chronic mucocutaneous candidiasis and primary hypothyroidism complicated by oesophageal carcinoma.
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.
Koch
D
D
Department of Dermatology, James Cook University Hospital, Middlesbrough, UK. dimikoch@doctors.org.uk
Lilic
D
D
Carmichael
A J
AJ
D000328:Adult; D002178:Candidiasis, Chronic Mucocutaneous / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002294:Carcinoma, Squamous Cell / Q000150:complications / Q000473:pathology; D002675:Child, Preschool; D004938:Esophageal Neoplasms / Q000150:complications / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications / Q000235:genetics* / Q000473:pathology