Birt-Hogg-Dube Syndrome (BHDS) is associated with a number of findings in the skin, lungs and kidneys.


Occurrence: de novo mutation or inheritance as an autosomal dominant trait with a high penetrance


Chromosome affected: 17p11.2


Gene affected: FLCN (also referred to as BHD), with deletion or duplication at exon 11


Product: folliculin


Onset: during adulthood


Skin lesions - multiple lesions covering the head, neck and upper thorax:

(1) fibrofolliculomas (most specific skin finding)

(2) angiofibromas (trichodiscomas)

(3) perifollicular fibromas

(4) acrochordons (skin tags)

(5) cutaneous collagenomas



(1) multiple, bilateral pulmonary cysts, which can rupture causing pneumothorax


Renal tumors - multiple and bilateral:

(1) oncocytomas

(2) chromophobe renal cell carcinoma

(3) oncoytoma-chromophobe renal cell carcinoma hybrid tumors

(4) papillary or clear cell renal cell carcinomas


Other lesions:

(1) oral papules

(2) parotid oncocytoma or parotid adenoma


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