Perifollicular fibroma in Birt-Hogg-Dubé syndrome: an association revisited.

Research paper by Marianna M Shvartsbeyn, Ashley R AR Mason, Marcus W MW Bosenberg, Christine J CJ Ko

Indexed on: 26 Jun '12Published on: 26 Jun '12Published in: Journal of Cutaneous Pathology


Mutation in the folliculin gene in Birt-Hogg-Dubé (BHD) syndrome leads to a spectrum of benign tumors of the hair follicle, classically including both fibrofolliculoma and trichodiscoma. In addition, lesions clinically indistinguishable from fibrofolliculoma/ trichodiscoma may show histopathologic findings of perifollicular fibroma or angiofibroma. Although some consider perifollicular fibroma to be a variant of angiofibroma, the specific histopathologic findings of perifollicular fibroma are uncommon.This is a case series.In 4 patients with multiple facial lesions, recognizing perifollicular fibroma would have been helpful in leading to the diagnosis of BHD syndrome.Perifollicular fibroma is on a spectrum with fibrofolliculoma and trichodiscoma; in a patient with multiple lesions, the diagnosis of perifollicular fibroma is suggestive of BHD syndrome.