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


CONCLUSIONS
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.
Department of Pathology, New York University School of Medicine, New York, NY 10016, USA. Marianna.Shvartsbeyn@nyumc.org
Marianna
M
Shvartsbeyn
Ashley R
AR
Mason
Marcus W
MW
Bosenberg
Christine J
CJ
Ko
D000328:Adult; D000368:Aged; D058249:Birt-Hogg-Dube Syndrome / Q000473:pathology*; D005153:Facial Neoplasms / Q000473:pathology*; D005350:Fibroma / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012878:Skin Neoplasms / Q000473:pathology*