Birt-Hogg-Dubé syndrome.

Abstract:

:A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was corroborated by identification of a novel frameshift c.573delGAinsT (p.G191fsX31) mutation in heterozygosity on exon 6 of the folliculin gene. The presence of multiple and typical benign hair follicle tumors highlights the role of the dermatologist in the diagnosis of this rare genodermatosis that is associated with an increased risk of renal cell cancer and pulmonary cysts, warranting personal and familial follow-up and counseling.

journal_name

An Bras Dermatol

authors

Lencastre A,Ponte P,Apetato M,Nunes L,Lestre S

doi

10.1590/abd1806-4841.20132199

subject

Has Abstract

pub_date

2013-11-01 00:00:00

pages

203-5

issue

6 Suppl 1

eissn

0365-0596

issn

1806-4841

pii

S0365-05962013000800203

journal_volume

88

pub_type

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