Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome

Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome

Birt-Hogg-Dubé (BHD) syndrome is a cancer disorder caused by a pathogenic FLCN mutation characterized by fibrofolliculomas, lung cysts, pneumothorax, benign renal cyst, and renal cell carcinoma (RCC). In this case we describe a patient with bilateral renal tumour and a positive familial history for pneumothorax and renal cancer. Based on this clinical presentation, the patient was suspected for...

Birt-Hogg-Dubé syndrome*

A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was cor...

Birt-Hogg-Dubé syndrome with renal angiomyolipoma.

A 43-year-old woman who was referred to our clinic had a right-sided pneumothorax, multiple pulmonary cysts and a right renal tumor. The preliminary diagnosis was possible lymphangioleiomyomatosis (LAM). Previously, she had a pneumothorax that recapitulated a similar family history in her son, grandfather and cousin. The patient’s CT images revealed multiple pulmonary cysts with round or irregu...

Familial pneumothoraces: Birt-Hogg-Dubé syndrome.

Case Report of Birt–Hogg–Dubé Syndrome

Birt-Hogg-Dubé (BHD) is a rare autosomal dominant inherited syndrome that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. Here, the 2 patients we reported with renal cell carcinomas and dermatological features were suspected to be suffering from BHD syndrome. Blood samples of these patients were sent for w...