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References in periodicals archive ?
Birt-Hogg-Dube syndrome in an African patient and a novel mutation in the FLCN gene.
She eventually underwent resection of the left kidney mass with a partial nephrectomy and a final pathologic diagnosis of an oncocytoma, which is a typical tumor type for Birt-Hogg-Dube syndrome. Her postoperative course was unremarkable with a planned sequential right nephrectomy pending further evaluation.
Toro et al., "Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome," Cancer Cell, vol.
Matyas, "Birt-Hogg-Dube syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas," Familial Cancer, vol.
Although the characterization and grouping of hRCC is evolving, we have limited our recommendations to those hRCC in which renal tumours are a prominent clinical presentation and various recommendations are available, including: von Hippel Lindau syndrome (VHL), hereditary papillary renal cell carcinoma (HPRC), hereditary leiomyomatosis renal cell carcinoma (HLRCC), Birt-Hogg-Dube syndrome (BHD), hereditary paragangliomas-pheochromocytoma syndromes (SDHB/SDHC/SDHD) and tuberous sclerosis complex (TSC).
Birt-Hogg-Dube syndrome (BHDS) was originally described in 1977 and is nowadays known as a rare autosomal dominant cancer disorder characterized by fibrofolliculomas, lung cysts, pneumothorax, benign renal cyst, and renal cell carcinoma (RCC).
* Birt-Hogg-Dube syndrome. This condition is associated with kidney cancer and is marked by benign fibrofolliculomas and trichodiscomas that most often occur on the head and neck.