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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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.[1]


  1. Birt-Hogg-Dubé syndrome and multinodular goitre. Drummond, C., Grigoris, I., Dutta, B. Australas. J. Dermatol. (2002) [Pubmed]
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