Pulmonary lymphangioleiomyomatosis in a man

Pulmonary lymphangioleiomyomatosis (LAM) is an uncommon disease reported to occur exclusively in women. We describe a phenotypically normal man with p ulmonary LAM. Fluorescence in situ hybridization (FISH) studies performed o n the lung biopsy confirmed a normal XY genotype. Our patient also had stig mata of tuberous sclerosis complex (TSC), including facial angiofibromas an d renal angiomyolipoma. Immunohistochemical stains of both LAM and renal an giomyolipoma showed positive immunoreactivity for hamartin (TSC1) and loss of immunoreactivity for tuberin (TSC2). Loss of heterozygosity (LOH) for TS C2 was further demonstrated in the renal angiomyolipoma. Coupled with the r esults of immunostains, these findings are consistent with TSC2 mutation.