Birt-Hogg-Dubé syndrome is characterized by clinical manifestations such as hamartomas of the skin, renal tumors and lung cysts with spontaneous pneumothoraces. Patients with Birt-Hogg-Dubé syndrome may present with only multiple lung cysts. We report the chest computerized tomography (CT) features of three patients with Birt-Hogg-Dubé syndrome. Each patient had multiple lung cysts of various s...

The Birt-Hogg-Dubé syndrome, a genodermatosis characterized by benign tumors of the hair follicle, has been associated with renal and colonic neoplasms and spontaneous pneumothorax, but the risk of developing these disorders is unknown. We identified risk factors for renal tumors and spontaneous pneumothorax in 98 patients affected with the Birt-Hogg-Dubé syndrome, in 13 Birt-Hogg-Dubé haplotyp...

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.

Patients with the Birt-Hogg-Dubé cancer susceptibility syndrome are at high risk of developing renal cell carcinoma, pulmonary cysts and pneumothorax, and skin lesions called fibrofolliculomas. Here we report the case of a Birt-Hogg-Dubé patient with a primary clear cell carcinoma of the thyroid (a very rare type of thyroid cancer), and FLCN loss of heterozygosity within the tumour, providing m...

A 38-year-old woman presented in 2004 a spontaneous pneumothorax (Figure 1a). Outcome was favorable with treatment with chest tube drainage. Eight years later, she complained of dyspnea. A computed tomography scan of the chest revealed lung cysts (Figure 1b). She presented 2–4mm, white, dome-shaped papules involving the neck, which appeared during the last 2 years. Her brother also presented mu...

The issues examined in this paper are located within the context of the debate in Social Identity Theory (SIT) about the motivational forces underlying identity formation. The starting point of the paper is SIT in the tradition of Tajfel and Turner (Tajfel & Turner, 1979; Tajfel 1981, Hogg & Abrams, 1988). According to SIT, people are motivated by a fundamental need for self-esteem in the proce...

Birt-Hogg-Dubé syndrome is an autosomal dominantly inherited disease that predisposes patients to develop fibrofolliculoma, lung cysts and bilateral multifocal renal tumors, histologically hybrid oncocytic/chromophobe tumors, chromophobe renal cell carcinoma, oncocytoma, papillary renal cell carcinoma and clear cell renal cell carcinoma. The predominant forms of Birt-Hogg-Dubé syndrome-associat...

BACKGROUND The Birt-Hogg-Dubé syndrome is a rare cancer susceptibility syndrome characterised by renal tumours, lung cysts and pneumothoraces, and fibrofolliculomas. It is caused by dominantly inherited mutations in FLCN. Our objective was to report renal tumour characteristics in a large series of patients with the Birt-Hogg-Dubé syndrome. METHODS We studied French Birt-Hogg-Dubé patients wi...

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...

Birt-Hogg-Dubé syndrome, initially described in 1977, is an autosomal dominant inherited condition characterised by basal pulmonary cysts often resulting in pneumothorax, renal tumours and cutaneous involvement. Lung cysts have been described in up to 90% of patients with a corresponding risk of pneumothorax of 50 times greater than the normal population. We describe here a case of Birt-Hogg-Du...