Birt-Hogg-Dubé syndrome

Case contributed by Sophie Gregory


Recurrent spontaneous bilateral pneumothorax, never smoker

Patient Data

Age: 60 years
Gender: Female

History of pneumothorax bilaterally over a 10 year period requiring VATS pleurodesis, without associated trauma or smoking history.

Follow up MRI kidneys


There is a simple cyst in the lower pole of the right kidney measuring 13 mm. Multiple smaller cysts less than 5 mm throughout kidneys bilaterally. No solid enhancing renal lesion. No hydronephrosis. No calculi.

A number of cysts are identified throughout the liver, some simple and some with thin internal septation. The largest cyst is located within segment VII and measures 42 mm. The cyst within segment IVb appears to abut the left hepatic duct, however it is unclear whether it directly communicates with the biliary tree. There is no enhancement of the cysts.

No abnormalities identified in the remaining imaged abdomen.

Case Discussion

Birt-Hogg-Dube syndrome is a rare condition with autosomal dominant inheritance characterized by benign skin lesions, cysts in the lungs and kidneys with increased risk for development of renal cancers over their lifetime compared to the general population.

Diagnosis of the syndrome in this patient was made based upon identification of the characteristic skin fibrofolliculomas around the nose on the background of known history of bilateral spontaneous pneumothoraces (unfortunately given the time since pneumothorax and procedures there were no available images of the chest to add to this case). Biopsy of the skin lesion (below) confirmed the suspicions of Birt-Hogg-Dube syndrome given the characteristic and diagnostic findings.

Skin biopsy microscopy:
Sections show a fibrofolliculoma. In one of the deeper levels the pattern is more that of a trichodiscoma. Ackerman made the point that the two entities are different expressions of the same disease process. That is, the patient has the Birt Hogg Dube syndrome.
Summary: fibrofolliculoma/trichodiscoma

The patient undergoes the recommended 3 yearly MRI kidneys, and has USS kidneys annually in the interim years to assess growth of renal cysts given the syndrome's high risk of renal cancers.

This case reiterates the importance of the consideration of this condition in patients who present with spontaneous pneumothorax without other cause identified, as appropriate screening can be implemented to identify renal cancers early.

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