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)
