Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Birt-Hogg-Dubé Syndrome

System/ConcernEvaluationComment
Integument Detailed dermatologic examination
Pulmonary HRCT or CT of the chest for visualization of pulmonary cystsIndividuals w/symptoms/signs of pneumothorax should immediately undergo chest x-ray & CT of the chest
Renal Abdominal/pelvic MRI to screen for renal tumor(s)
Other Consultation w/clinical geneticist &/or genetic counselor

HRCT = high-resolution computed tomography

From: Birt-Hogg-Dubé Syndrome

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