Abstract
In this case, we describe a patient with a history of recurrent pneumothorax. Based on CT-thorax and histopathology of the lung tissue, the Birt-Hogg-Dubé syndrome was suspected and confirmed after genetic testing. Recognizing this syndrome by pulmonologists and radiologists is very important, because the risk on developing of renal cell cancer is high.
MeSH terms
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Adult
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Birt-Hogg-Dube Syndrome / complications*
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Birt-Hogg-Dube Syndrome / diagnosis
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Birt-Hogg-Dube Syndrome / genetics
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Cysts / diagnosis
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Cysts / etiology*
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DNA Mutational Analysis
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Genetic Predisposition to Disease
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Genetic Testing / methods
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Humans
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Lung Diseases / diagnosis
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Lung Diseases / etiology*
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Male
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Mutation
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Phenotype
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Pneumothorax / etiology
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Proto-Oncogene Proteins / genetics
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Recurrence
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Tomography, X-Ray Computed
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Tumor Suppressor Proteins / genetics
Substances
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FLCN protein, human
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Proto-Oncogene Proteins
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Tumor Suppressor Proteins