title: Pulmonary lymphangioleiomyomatosis in a karyotypically normal man without tuberous sclerosis complex.
abstract: BACKGROUND
  The three previously reported cases of conclusively documented pulmonary lymphangioleiomyomatosis (LAM) in men were associated with definite or probable tuberous sclerosis complex (TSC).
  
  
  OBJECTIVE
  To describe an unequivocal case of pulmonary LAM occurring in a man with no clinical or genotypic evidence of TSC.
  
  
  METHODS
  At high-resolution computed tomography, a 37-year-old phenotypically and karyotypically normal man with left pneumothorax and massive pulmonary collapse had widespread thin-walled cysts throughout both lungs. Histological diagnosis of LAM was performed on biopsy material, and immunohistochemically confirmed with the HMB-45 monoclonal antibody.
  
  
  RESULTS
  Remarkably, the HMB-45-positive cells lining the cysts also showed strong reactivity for estrogen and progesterone receptor proteins. TSC was clinically excluded, and TSC1 and TSC2 germline mutations were not detected at DNA analysis.
  
  
  CONCLUSIONS
  This article indicates that occurrence of LAM may be possible in a chromosomally normal man unaffected by TSC. On diagnostic grounds, the possibility of LAM should be borne in mind when diffuse cystic lung disease occurs in a man, even in the absence of signs of TSC.
authors: Unit of Lung Physiopathology, Azienda Ospedaliera S. Orsola-Malpighi and University of Bologna, Bologna, Italy.
authors: Mario
authors: M
authors: Schiavina
authors: Valerio
authors: V
authors: Di Scioscio
authors: Paola
authors: P
authors: Contini
authors: Alberto
authors: A
authors: Cavazza
authors: Andrea
authors: A
authors: Fabiani
authors: Marco
authors: M
authors: Barberis
authors: Alessandro
authors: A
authors: Bini
authors: Annalisa
authors: A
authors: Altimari
authors: Robin M T
authors: RM
authors: Cooke
authors: Walter F
authors: WF
authors: Grigioni
authors: Antonia
authors: A
authors: D'Errico-Grigioni
mesh_terms: D000328:Adult; D000951:Antigens, Neoplasm; D006801:Humans; D007150:Immunohistochemistry; D019656:Loss of Heterozygosity; D018192:Lymphangioleiomyomatosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D008297:Male; D058950:Melanoma-Specific Antigens; D009363:Neoplasm Proteins / Q000032:analysis; D011030:Pneumothorax / Q000209:etiology; D012737:Sex Factors; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D000951:Antigens, Neoplasm; D058950:Melanoma-Specific Antigens; D009363:Neoplasm Proteins; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins