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PubMed1993

Angiosarcoma in congenital hereditary lymphoedema (Milroy's disease)--diagnostic beacons and a review of the literature.

In cases of congenital lymphoedema the finding of ulceration, violaceous nodules or papules, or apparent traumatic ecchymoses should act as a diagnostic beacon warning of dangers. A case is reported of a high-grade angiosarcoma developing in a patient with congenital hereditary lymphoedema (Milroy's disease). This is the second paper to report this complication, the third case report and the first case in which the diagnosis is substantiated by immunohistochemistry and lectin histochemistry. A review of cases of angiosarcoma complicating congenital hereditary and non-hereditary lymphoedema is also presented.

Adult↗
PubMed1989

Lymphangiosarcoma in chronic hereditary oedema (Milroy's disease).

Lymphangiosarcoma arising in chronic lymphoedema is extremely rare. In a reference population of about four million people, during a thirty year period (1957-1987), only four patients were treated for such a tumour. The neoplasm is almost exclusively seen in elderly patients after mastectomy but in two of our patients, reported in this paper, it arose in chronic hereditary oedema (Milroy's disease). In both these patients there was a considerable treatment delay because of wrong diagnosis. The tumour extent was difficult to assess macroscopically and ablative surgery had to be a disarticulation of the involved extremity. Macular or papular purple lesions in a lymphoedematous extremity should be a manifestation of this aggressive neoplasm.

Adult↗
PubMed1980

[Milroy's disease and primary lymphoedema. Exploration methods, therapeutic aspects (author's transl)].

The most early outset, the usually bilateral type, the eventual association with abnormalities of extremities distinguish Milroy-Meige-Nonne' disease and congenital not familial lymphedema. Two cases illustrate this problem. The simplicity of realization, the topographic informations and the possibility of repetition are arguments for isotope lymphangiography with colloidal sulfur of rhenium.

Adult↗
PubMed2002

[Genetics of lymphedema: from Milroy's disease to cancer investigations].

New insight has recently been obtained into the molecular mechanisms regulating lymphatic development and function during embryogenesis. VEGF-C and D ligands have been shown to stimulate lymphangiogenesis and their lymphatic-specific receptor VEGFR-3 is linked to the human congenital and hereditary lymphedema in humans. Above all, new focus on lymphatic endothelial cells gives opportunities for developing innovative therapies for lymphedema and cancer metastasis.

Endothelial Growth Factors↗
PubMed2000

Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.

Hereditary lymphedema is a chronic swelling of limbs due to dysfunction of lymphatic vessels. An autosomal dominant, congenital form of the disease, also known as "Milroy disease," has been mapped to the telomeric part of chromosome 5q, in the region 5q34-q35. This region contains a good candidate gene for the disease, VEGFR3 (FLT4), that encodes a receptor tyrosine kinase specific for lymphatic vessels. To clarify the role of VEGFR3 in the etiology of the disease, we have analyzed a family with hereditary lymphedema. We show linkage of the disease with markers in 5q34-q35, including a VEGFR3 intragenic polymorphism, and we describe an A-->G transition that cosegregates with the disease, corresponding to a histidine-to-arginine substitution in the catalytic loop of the protein. In addition, we show, by in vitro expression, that this mutation inhibits the autophosphorylation of the receptor. Thus, defective VEGFR3 signaling seems to be the cause of congenital hereditary lymphedema linked to 5q34-q35.

Amino Acid Sequence↗