Question: What are the symptoms of Birt-Hogg-Dube syndrome ?
Answer: What are the signs and symptoms of Birt-Hogg-Dube syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Birt-Hogg-Dube syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin 90% Emphysema 90% Abnormality of retinal pigmentation 50% Multiple lipomas 50% Neoplasm of the gastrointestinal tract 7.5% Neoplasm of the parathyroid gland 7.5% Neoplasm of the thyroid gland 7.5% Renal neoplasm 7.5% Salivary gland neoplasm 7.5% Abnormality of the abdomen - Abnormality of the hair - Autosomal dominant inheritance - Fibrofolliculoma - Renal cell carcinoma - Renal cyst - Spontaneous pneumothorax - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What are the treatments for Birt-Hogg-Dube syndrome ?
Answer: How might lung cysts associated with Birt-Hogg-Dube syndrome be treated? At the time of diagnosis of Birt-Hogg-Dube (BHD) syndrome, a computed tomography (CT) scan, or high resolution CT scan if available, should be done to determine the number, location, and size of any cysts in the lungs. There is no recommended management of the lung cysts. Lung cysts related to BHD have not been associated with long-term disability or fatality. The main concern is that the cysts may increase the chance of developing a collapsed lung (pneumothorax). If an individual with BHD experiences any symptoms of a collapsed lung - such as chest pain, discomfort, or shortness of breath - they should immediately go to a physician for a chest x-ray or CT scan. Therapy of a collapsed lung depends on the symptoms, how long it has been present, and the extent of any underlying lung conditions. It is thought that collapsed lung can be prevented by avoiding scuba diving, piloting airplanes, and cigarette smoking. Individuals with BHD who have a history of multiple instances of collapsed lung or signs of lung disease are encouraged to see a lung specialist (pulmonologist).
Source: GARD