New Mutation in the Birt Hogg Dube Gene.
نویسندگان
چکیده
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 the gene involved in Birt-Hogg-Dube syndrome.
منابع مشابه
Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome
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.
متن کاملPneumothorax and Birt–Hogg–Dube syndrome: diagnostic and therapeutic aspects
We report a case of spontaneous recurrent pneumothorax in a 32-year-old male with a family history of Birt–Hogg–Dube syndrome. Specific aspects of the surgical treatment for a pneumothorax within this particular setting are discussed as well as the potential underdiagnosis of this complex genodermatosis. The literature linking the syndrome to spontaneous pneumothorax is reviewed.
متن کاملAn unusual case of Birt-Hogg-Dube syndrome with renal involvement.
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 w...
متن کاملDetection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome
Birt-Hogg-Dube syndrome (BHD, OMIM#135150) is a rare disease in clinic; it is characterized by skin fibrofolliculomas, pulmonary cysts with an increased risk of recurrent pneumothorax, renal cysts, and renal neoplasms. Previous studies have demonstrated that variants in folliculin (FLCN, NM_144997) are mainly responsible for this disease. In this research, we enrolled two BHD families and appli...
متن کاملBirt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors
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:
- Actas dermo-sifiliograficas
دوره 101 7 شماره
صفحات -
تاریخ انتشار 2010