Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin.
MYH associated polyposis is an autosomal recessive polyposis syndrome with a high risk of large bowel cancer, caused by mutations in the DNA repair gene MYH. Founder mutations have been described in different ethnic groups. Muir Torre Syndrome is the association of internal malignancies with sebaceous gland tumours; Lynch Syndrome/Hereditary Non Polyposis Cancer is the best known cause. There has been a previous report of sebaceous gland tumours in an Italian patient with MYH associated polyposis. We describe a man of Indian (Gujarati) descent who has MYH associated polyposis and multiple sebaceous adenomas of the skin.
Ajith Kumar
Vadakke Kanakath
VK
North East Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK. KumarA@gosh.nhs.uk
Gold
June Anne
JA
Mallon
Eleanor
E
Thomas
Shyamala
S
Hodgson
Shirley V
SV
D000236:Adenoma / Q000175:diagnosis / Q000235:genetics*; D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D045647:DNA Glycosylases / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012307:Risk Factors; D012626:Sebaceous Gland Neoplasms / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase