Birt-Hogg-Dubé syndrome and multinodular goitre.
A 50-year-old woman presented with multiple skin-coloured facial papules. There was a family history of similar lesions. Histology of one of these papules was consistent with fibrofolliculoma. Multiple fibrofolliculomas together with flexural acrochordons suggested the diagnosis of Birt-Hogg-Dubé syndrome. Investigations to exclude associated disease revealed changes consistent with multinodular goitre on thyroid ultrasound. The literature regarding the association of Birt-Hogg-Dubé syndrome with internal disease is reviewed.
Drummond
Catherine
C
Prince of Wales Hospital, New South Wales, Australia. cjdrummond@bigpond.com
Grigoris
Irene
I
Dutta
Bish
B
D005153:Facial Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006044:Goiter, Nodular / Q000150:complications*; D006801:Humans; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000150:complications* / Q000175:diagnosis; D012878:Skin Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics