Pulmonary lymphangioleiomyomatosis in a man
MC Aubry, JL Myers, JH Ryu, EP HENSKE… - American journal of …, 2000 - atsjournals.org
MC Aubry, JL Myers, JH Ryu, EP HENSKE, H Logginidou, SM Jalal, HD Tazelaar
American journal of respiratory and critical care medicine, 2000•atsjournals.orgPulmonary lymphangioleiomyomatosis (LAM) is an uncommon disease reported to occur
exclusively in women. We describe a phenotypically normal man with pulmonary LAM.
Fluorescence in situ hybridization (FISH) studies performed on the lung biopsy confirmed a
normal XY genotype. Our patient also had stigmata of tuberous sclerosis complex (TSC),
including facial angiofibromas and renal angiomyolipoma. Immunohistochemical stains of
both LAM and renal angiomyolipoma showed positive immunoreactivity for hamartin (TSC1) …
exclusively in women. We describe a phenotypically normal man with pulmonary LAM.
Fluorescence in situ hybridization (FISH) studies performed on the lung biopsy confirmed a
normal XY genotype. Our patient also had stigmata of tuberous sclerosis complex (TSC),
including facial angiofibromas and renal angiomyolipoma. Immunohistochemical stains of
both LAM and renal angiomyolipoma showed positive immunoreactivity for hamartin (TSC1) …
Pulmonary lymphangioleiomyomatosis (LAM) is an uncommon disease reported to occur exclusively in women. We describe a phenotypically normal man with pulmonary LAM. Fluorescence in situ hybridization (FISH) studies performed on the lung biopsy confirmed a normal XY genotype. Our patient also had stigmata of tuberous sclerosis complex (TSC), including facial angiofibromas and renal angiomyolipoma. Immunohistochemical stains of both LAM and renal angiomyolipoma showed positive immunoreactivity for hamartin (TSC1) and loss of immunoreactivity for tuberin (TSC2). Loss of heterozygosity (LOH) for TSC2 was further demonstrated in the renal angiomyolipoma. Coupled with the results of immunostains, these findings are consistent with TSC2 mutation.
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