Developmental Disorders of the Lymphatics

An information blog for disorders of the lymphatics. For all articles, please click on "Archives" - Due to spammers, I will no longer allow comments, sorry.

Tuesday, February 21, 2006

Gorham-stout syndrome: a monocyte-mediated cytokine propelled disease.

February 2006

Colucci S, Taraboletti G, Primo L, Viale A, Roca C, Valdembri D, Geuna M, Pagano M, Grano M, Pogrel AM, Harris AL, Athanasou NN, Mantovani A, Zallone A, Bussolino F.

Istituto di Anatomia Umana Normale, Universita di Bari, Bari, Italy.

We studied the biological features and the immunophenotype of a cell culture established from the lesion of soft tissues of a woman affected by Gorham-Stout syndrome. We found that these cells belonged to a monocytic lineage with some characteristics of immature osteoclasts and were able to release large amounts of osteoclastogenic and angiogenic molecules that may contribute to disease progression.

INTRODUCTION: Gorham-Stout syndrome is a rare disease characterized by osteolysis and proliferation of vascular or lymphatic vessels, with a severe outcome. Its etiology and the identification of the cell types involved are completely unknown.

MATERIALS AND METHODS: A cell culture from a lesion of soft tissues was established, and its behavior in vitro and in immunodeficient mice was studied. We analyzed (1) the cell phenotype by flow cytometry; (2) the adhesive and migratory properties on different substrates; (3) the ability to differentiate into mature osteoclasts; (4) the production of osteclastogenic and angiogenic molecules; (5) the in vivo angiogenic activity of the cells subcutaneously implanted in mouse in a Matrigel plug; and (6) the ability to recapitulate the disease when transplanted in nude mice.

RESULTS AND CONCLUSIONS: The established culture consisted of a morphologically homogeneous cell population belonging to a monocytic lineage having some features of an osteoclast-like cell type. Cells had an invasive phenotype, were angiogenic, and produced osteoclastogenic (IL-6, TGF-beta1, IL-1beta) and angiogenic (vascular endothelial growth factor-A [VEGF-A], CXCL-8) molecules when challenged with inflammatory cytokines. Immunodeficient mice injected with these cells did not show any bone lesions or vascular alteration, but had high amounts of circulating human IL-6 and VEGF-A. Cells isolated from a cutaneous lymphangiomatosis did not show any of these findings. These data suggest that cells of monocyte-macrophage lineage play an essential role in the pathogenesis of Gorham-Stout disease, whose progression is propelled by cytokine circuits that accelerate angiogenesis and osteoclastogenesis.PMID: 16418776

[PubMed - in process]


Heterogenicity of Gorham-Stout syndrome: association with lymphatic and venous malformations

Somoza Argibay I, Diaz Gonzalez M, Martinez Martinez L, Ros Mar Z, Lopez-Gutierrez JC.Unidad de Cirugia Plastica Infantil. Servicio de Cirugia Pediatrica. Hospital Materno Infantil La Paz. Madrid. Espana.

INTRODUCTION: Gorham-Stout syndrome is a rare disorder of unknown etiology characterized by osteolysis and microscopic proliferation of abnormal vessels. We report two cases of this syndrome associated with lymphatic and venous malformations.

CASE REPORTS: The first case is a 5-year-old boy with disseminated lymphangiomatosis of poor prognosis, with significant pleural involvement and osteolytic lesions. The second case is a 5-year-old girl with a diagnosis of Klippel-Trenaunay syndrome with significant skeletal involvement of the lower extremities and secondary pathological fracture.

CONCLUSIONS: Gorham-Stout syndrome may occasionally be associated with various lymphatic and venous malformations. Osteolysis and bone resorption may be induced by lymphatic bone involvement.

Publication Types:
Case ReportsPMID: 12781118

[PubMed - indexed for MEDLINE]

Full Clinical Study in Original Spanish


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