TOPIC: Genetic and Developmental Disorders TYPE: Medical Student/Resident Case Reports INTRODUCTION: Birt-Hogg-Dubé Syndrome (BHDS), is an exceedingly rare autosomal dominant disorder caused by a mutation in the folliculin (FCLN) gene. This can lead to pulmonary cysts, spontaneous pneumothorax, skin lesions, renal tumors CASE PRESENTATION: A 39-year-old female was hospitalized for pneumothorax ...

Background: Here we present a case of 56 year old female who presented with mild shortness of breath and right side pain. Chest tomography indicated bilateral bullous pulmonary lesions as the causal of the patient’s discomfort and pain. The patient had familial history of cancer and pneumothorax, and had undergone surgery on the left lung due to bullous lesion and pneumothorax. The patient has ...

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...

Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis characterized by the presence of fibrofolliculomas, renal cancer, pulmonary cysts, and spontaneous pneumothorax. Recently, the folliculin gene responsible for this process has been identified, located on the short arm of chromosome 17. We present the case of a 49-year-old man with multiple whitish papules on the face, neck, and ret...

InAs/GaAs quantum dots Y. D. Jang, T. J. Badcock, D. J. Mowbray, M. S. Skolnick, J. Park, D. Lee, H. Y. Liu, M. Hopkinson, R. A. Hogg, and A. D. Andreev Department of Physics and Astronomy, University of Sheffield, Sheffield S3 7RH, United Kingdom Department of Physics, Chungnam National University, Daejeon 305-764, South Korea Department of Electronic and Electrical Engineering, University of ...

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