Tetralogy of Fallot is the most common form of cyanotic congenital heart disease, characterized by ventricular septal defect, overriding aorta, pulmonary stenosis and right ventricular hypertrophy [1,2].
This clinical case reports a rare disease-Birt-Hogg-Dubé Syndrome-characterized by skin lesions and multiple lung cysts. Because of its rarity, BHDS is likely undiagnosed and mistaken for primary spontaneous pneumothorax or emphysema. An early diagnosis is important to set up screening for renal cancer in patients and affected relatives.
CLINICAL IMAGEA previously healthy 41-year-old patient, referred to the Pulmonology Department for fibrofolliculomas and trichodiscomas in the face (Figure 1A, B) and changes in chest computed tomography (CT). She had no respiratory or constitutional symptoms. The physical examination was unremarkable. Laboratory data, including alfa-1 antitrypsin, were normal. Chest CT showed multiple cysts in the basal parts of the lungs (Figure 1C, D). Pulmonary function tests and magnetic resonance imaging of the kidneys were normal. Genetic screening revealed that the patient had a mutation in the FLCN gene, c.1015C>T, which confirmed the diagnosis of Birt-Hogg-Dubé Syndrome (BHDS). Family members were offered genetic counselling and investigations. The patient received CO 2 laser treatment and was informed about the risk of spontaneous pneumothorax.BHDS is a rare disease with an increased risk of fibrofolliculomas in the skin, multiple lung cysts predisposing to recurrent pneumothorax and increased risk of renal cancer. 1,2 Its clinical expression is variable, which makes the diagnosis and management difficult. 1
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