A patient should be tested for Birt-Hogg-Dube Syndrome (BHDS) if certain clinical findings are present.


Indications for testing a patient for Birt-Hogg-Dube Syndrome - one or more of the following:

(1) family history of pneuomothorax AND an autosomal dominant pattern of inheritance AND no other explanation (such as COPD)

(2) multiple renal tumors (chromophobe, oncocytic and/or hybrid)

(3) single chromophobe/oncocytic/hybrid renal tumor AND family history of chromophobe/oncocytic/hybrid renal tumor

(4) facial angiofibromas AND not meeting criteria for tuberous sclerosis complex or MEN1

(5) >= 5 skin papules on face and trunk AND >= 1 fibrofolliculoma confirmed histologically

(6) BHDS in parents or siblings (autosomal dominant pattern of inheritance)


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