Pulmonary lymphangioleiomyomatosis in a man

M. C. Aubry, J. L. Myers, J. H. Ryu, E. P. Henske, H. Logginidou, S. M. Jalal, H. D. Tazelaar

Research output: Contribution to journalArticlepeer-review

106 Scopus citations


Pulmonary lymphangioleiomyomatosis (LAM) is an uncommon disease reported to occur exclusively in women. We describe a pheno-typically 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.

Original languageEnglish (US)
Pages (from-to)749-752
Number of pages4
JournalAmerican journal of respiratory and critical care medicine
Issue number2 I
StatePublished - 2000

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Critical Care and Intensive Care Medicine


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