Abstract
Birt-Hogg-Dubé syndrome is rare genodermatosis caused by a mutation in the folliculin gene. It is characterized by pulmonary cysts, renal tumors, and a variety of skin manifestations including trichodiscomas, fibrofolliculomas, less commonly reported angiofibromas, and perifollicular fibromas. These cutaneous lesions have overlapping histopathologic features. Here we report a case of a man presenting with facial papules and nonspecific histology found to have Birt-Hogg-Dubé syndrome and a novel mutation in the folliculin gene. Our aim is to raise awareness of the spectrum of associated cutaneous and pathologic findings in Birt-Hogg-Dubé syndrome, which are not all included in the diagnostic criteria.
Highlights
Pneumothorax revealed a bleb in the anterior aspect of the right upper lobe of the lung and he subsequently underwent
Caused by a mutation in the folliculin (FLCN) gene on chromosome 17.1 It is Physical exam showed multiple 2-3 mm characterized by fibrofolliculomas, dome-shaped monomorphic whitish papules trichodiscomas, and acrochordons, in involving the neck, jaw, cheeks, forehead, addition to pulmonary cysts and renal tumors.[1]
Proposed diagnostic criteria for Birt-Hogg-Dubé syndrome (BHDS) include any one of: ≥5 facial or truncal papules with ≥1 histologically confirmed fibrofolliculoma; pulmonary cysts with or without history of spontaneous pneumothorax developing prior to age 40; multiple and bilateral chromophobe renal cell carcinoma or hybrid oncocytic tumors, which manifest on average between ages 46 and 52 years; a combination of cutaneous, pulmonary, or renal manifestations in a patient or family members; or germline mutation in FLCN.[1,10]
Summary
Pneumothorax revealed a bleb in the anterior aspect of the right upper lobe of the lung and he subsequently underwent. Birt-Hogg-Dubé syndrome (BHDS) is an blebectomy and right mechanical autosomal dominant genodermatosis pleurodesis. Caused by a mutation in the folliculin (FLCN) gene on chromosome 17.1 It is Physical exam showed multiple 2-3 mm characterized by fibrofolliculomas, dome-shaped monomorphic whitish papules trichodiscomas, and acrochordons, in involving the neck, jaw, cheeks, forehead, addition to pulmonary cysts and renal tumors.[1] Here we report a case of BHDS and bilateral helices (Fig. 1a-b). The patient was otherwise healthy and denied family and discuss the spectrum of associated history of renal neoplasms, cutaneous and pathologic findings
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