Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation

A 25-year-old male visited a nearby clinic due to sudden chest pain. A chest X-ray revealed the presence of fluid in his left lung and was subsequently sent to our hospital. He did not have any significant medical history and has been living a healthy life. However, his family history indicated that his mother, mother’s cousin, and maternal grandfather each suffered from pneumothorax, and his maternal grandfather suffered from colon cancer. Physical findings confirmed the presence of numerous small papules on his nose and neck regions; however, no other symptoms were found