Birt-Hogg-Dub´e syndrome is a genetic disorder characterized by skin fibrofolliculomas, cystic lung disease, and\nbilateral renal tumors. It has also been implicated in the formation of tumors in other organs, particularly thyroid and colon.\nThis case presents a young female presenting with only cystic lung disease and kidney tumors, identified as having a never before\nidentified heterozygous mutation in the folliculin (FLCN) gene which is the likely cause of her syndrome. Case Presentation. A 34-\nyear-old female was found to have bilateral renal masses, 2.4 cm on the right and 7.6 cm on the left, as well asmultiple, small cysts in\nthe lungs. Chest imaging further characterized the lung cysts as being basilar predominant with the largest measuring 1.6cm.The\nleft kidney mass was resected with a partial nephrectomy with final pathologic diagnosis of an oncocytoma. Genetic testing was\nundertaken as she did not have characteristic skin findings. A previously undescribed mutation in the FLCN gene (c.780-2A>G)\nwas identified with no matches in the human genetic mutation database (HGMD). Review of that database identified over 160\nseparate mutations in the FLCN gene. Extensive history did not identify any family members who had similar disease processes\nsuggesting that this could be a spontaneous mutation in the proband. Conclusions. This case highlights that the traditional view of\nBirt-Hogg-Dube syndrome as having a strong familial component may be incorrect and that spontaneous mutation may be more\ncommon than previously thought. Also notable is the fact that this patient had no characteristically described fibrofolliculomas\nthat traditionally are the hallmark of the condition. This case suggests that genetic testing should be obtained in all suspected cases\nof Birt-Hogg-Dube syndrome as the patient may not present with the typical skin findings and may also present with no family\nhistory consistent with this disorder.
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