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Perifollicular fibroma in Birt–Hogg–Dubé syndrome: an association revisited
Author(s) -
Shvartsbeyn Marianna,
Mason Ashley R.,
Bosenberg Marcus W.,
Ko Christine J.
Publication year - 2012
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/j.1600-0560.2012.01929.x
Subject(s) - birt–hogg–dubé syndrome , fibroma , angiofibroma , medicine , pathology , dermatology , anatomy , pneumothorax
Background: 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. Methods: This is a case series. Results: In 4 patients with multiple facial lesions, recognizing perifollicular fibroma would have been helpful in leading to the diagnosis of BHD syndrome. Conclusion: 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.