Birt-Hogg-Dubé Syndrome presenting with chronic progressive dyspnea

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...

A Case of Birt-Hogg-Dubé Syndrome

Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant genodermatosis characterized by cutaneous hair follicle tumors (fibrofolliculoma or trichodiscoma), pulmonary cysts, and increased risk of renal neoplasia. The genetic alteration for BHDS has been mapped to chromosome 17p12q11, and the gene in this region has been cloned and believed to be responsible for the BHDS. Mutations in the BHD gen...