Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome
نویسندگان
چکیده
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.
منابع مشابه
Pneumomediastinum and striking family history: uncommon case of Birt-Hogg-Dubé syndrome.
Birt-Hogg-Dubé syndrome is a rare autosomal dominant condition caused by a germline mutation in the folliculin gene, which is characterized by skin fibrofolliculomas, multiple lung cysts and renal cancer. The clinical expression of the syndrome is highly variable, with recurrent pneumothoraces due to ruptured lung cysts in many cases. We report a patient with pneumomediastinum and cervico-facia...
متن کاملIncidental radiological finding of a renal tumour leading to the diagnosis of Birt-Hogg-Dube syndrome.
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant condition characterised by benign tumours of the hair follicle, renal cancer, pulmonary cysts and spontaneous pneumothorax. We report the diagnosis of a BHD syndrome achieved after incidental radiological finding of a renal tumour in a 24-year old man. The patient also displayed recurrent pneumothoraces and showed to have cysts in the b...
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 کاملNew 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...
متن کاملNonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.
RATIONALE Approximately 10% of patients who have a spontaneous pneumothorax have a positive family history. OBJECTIVES We sought to identify DNA sequence variations that confer susceptibility to pneumothoraces. METHODS We collected 12 families that had at least 2 first-degree relatives with a spontaneous pneumothorax. All affected family members had no obvious stigmata of known genetic diso...
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عنوان ژورنال:
دوره 19 شماره
صفحات -
تاریخ انتشار 2016