Birt-Hogg-Dube syndrome
Diagnosis certain
Updates to Case Attributes
Body
was changed:
She is folliculin mutation positive. Her 25 year-old twin daughters also have typical lung cysts.
Birt-Hogg-Dube syndrome is an autosomal dominant mutation with characteristic skin manifestions. Lung cysts are common and are frequently complicated by recurrent pneumothorax, especially aftertypically provoked by an airline flight.
Renal tumours can be multifocal and bilateral, occurring in approximately one third of cases and the most common histology is chromophobe/oncocytoma hybrid. Lifelong 3 yearly screening by MRI is recommended.
None of the family have renal tumours to date.
-<p>She is folliculin mutation positive. Her 25 year-old twin daughters also have typical lung cysts.</p><p>Birt-Hogg-Dube syndrome is an autosomal dominant mutation with characteristic skin manifestions. Lung cysts are common and are frequently complicated by recurrent pneumothorax, especially after an airline flight. Renal tumours can be multifocal and bilateral, occurring in approximately one third of cases and the most common histology is chromophobe/oncocytoma hybrid. Lifelong 3 yearly screening by MRI is recommended.</p><p>None of the family have renal tumours to date.</p>- +<p>She is folliculin mutation positive. Her 25 year-old twin daughters also have typical lung cysts.</p><p>Birt-Hogg-Dube syndrome is an autosomal dominant mutation with characteristic skin manifestions. Lung cysts are common and are frequently complicated by recurrent pneumothorax, typically provoked by an airline flight.</p><p>Renal tumours can be multifocal and bilateral, occurring in approximately one third of cases and the most common histology is chromophobe/oncocytoma hybrid. Lifelong 3 yearly screening by MRI is recommended.</p><p>None of the family have renal tumours to date.</p>
Updates to Study Attributes
Images Changes:
Image CT (C+ arterial phase) ( update )
Specifics
was set to
C+ arterial phase.