Birt-Hogg-Dubé syndrome.
We present three members of a Queensland family with clinical and histopathological features consistent with Birt-Hogg-Dubé syndrome. Two of the three family members were able to be screened for associated disorders. The mother of the family was found to have a solitary colonic polyp, a large ovarian cyst and two chorioretinal scars. No associated disorders were found on investigation of one of the two affected sons.
Godbolt
Amanda M
AM
Department of Dermatology, Royal Brisbane Hospital, Herston, Queensland, Australia. ra_godbolt@hotmail.com
Robertson
Ivan M
IM
Weedon
David
D
D000328:Adult; D002825:Chorioretinitis / Q000150:complications; D003111:Colonic Polyps / Q000150:complications; D005153:Facial Neoplasms / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010048:Ovarian Cysts / Q000150:complications; D010375:Pedigree; D012878:Skin Neoplasms / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome