An unusual case of Birt-Hogg-Dube syndrome with renal involvement.
نویسندگان
چکیده
Received April 2007 Accepted October 2007 INTRODUCTION Recent investigations of the underlying pathophysiology of renal cell carcinoma (RCC) has resulted in the identification of involved molecular pathways, including the inactivation of the von Hippel-Lindau gene in most sporadic cases of RCC.(1) They are characterized by one specific histological type. In contrast, kidney tumors in patients with Birt-Hogg-Dube syndrome (BHD) consist of a variety of histological types.(2) We report a patient with multiple renal cell tumors in one kidney with a history of spontaneous pneumothorax, but without skin lesions which are typical signs of BHD syndrome.
منابع مشابه
New Mutation in the Birt Hogg Dube Gene.
Patients with Birt-Hogg-Dube syndrome have an increased risk of developing hamartomas of the pilosebaceous unit, renal tumors of various types, lung cysts, and spontaneous pneumothorax. We present the case of a 54-year-old woman with a long history of whitish papules in the central region of the face and a family history of similar lesions. Biopsy and genetic study revealed a new mutation of th...
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Birt-Hogg-Dube syndrome (BHDS) is a rare form of classically cystic lung disease that may present with spontaneous pneumothorax. The associated skin manifestations (fibrofolliculomas) are not always present. This article describes a case of spontaneous pneumothorax secondary to bullous emphysema in an otherwise healthy gentleman caused by a novel mutation in the folliculin (FLCN) gene.
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Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. We present a woman referred for genetic evaluation due to bilateral parotid gland tumors, who was subsequently diagnosed with Birt-Hogg-Dubé syndrome.
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عنوان ژورنال:
- Urology journal
دوره 5 4 شماره
صفحات -
تاریخ انتشار 2008