By Disease Name > Birt-Hogg-Dube syndrome

Birt-Hogg-Dube syndrome

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trichodiscomas = fibrofolliculomas  (when sectioned horizontally)
trichodiscomas are white
internal associations:
familial renal cell carcinoma
recurrent pneumothorax (secondary to pulmonary cysts)
colonic polyposis
work-up (all newly diagnosed patients and family members):
CXR
abdominal CT scan and US
colonoscopy
in general, the pulmonary symptoms predate the papules, and the renal and colonic abnormalities occur later in life, after the papules become apparent