Abdominal lymphangioleiomyomatosis in a man with Klinefelter syndrome: The first reported case

Maria Grazia Fiore, Francesca Sanguedolce, Ivan Lolli, Domenico Piscitelli, Rosalia Ricco

Research output: Contribution to journalArticlepeer-review


Lymphangioleiomyomatosis (LAM) is an uncommon progressive disease characterized by a hamartomatous tumor-like proliferation of smooth muscle cells that occurs most often in women. This disease commonly involves the lymph nodes, lungs, and mediastinum, and rarely the abdominal sites. We report a case of mesenteric LAM occurring in a 37-year-old man affected by Klinefelter syndrome with a 17-year history of androgen replacement therapy. Histology revealed a hamartomatous proliferation of spindle cells surrounding multiple ectatic lymphatic spaces intermixed with lymphatic follicles. When subjected to immunohistochemical studies, the tumor cells stained positive for muscular markers and negative for estrogen, progesterone, and androgen receptors. The occurrence of LAM in association with Klinefelter syndrome has never been reported in the literature and could represent a further clue in the still unclear pathogenesis of this disease.

Original languageEnglish
Pages (from-to)96-100
Number of pages5
JournalAnnals of Diagnostic Pathology
Issue number2
Publication statusPublished - Apr 2005


  • Androgen therapy
  • Klinefelter syndrome
  • Mesenteric lymphangioleiomyomatosis
  • Sex hormones

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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