FaCD Online Syndrome Fact Sheet

Last updated: 26 Jan 2011

Name: Congenital Hereditary Lymphedema

Synonym: Hereditary Lymphedema type I, Milroy's disease, Nonne-Milroy Lymphedema

Mode of Inheritance: AD

Genes

FTL4/VEGFR3, mapped to 5q35.3

Tumor features

angiosarcoma
Kaposiform hemangioendothelioma
lymphangiosarcoma

Non-tumor features

lymphedema

Comment

This disorder is characterized by congenital lymphedema, particularly of the lower part of the body. In very rare cases the disease is complicated by the development of lymphangiosarcoma or angiosarcoma in the edematous tissue[1,2,4]. Kaposiform hemangioendothelioma has been reported as well[3].

References

[1] Brostrom LA, Nilsonne U, Kronberg M, Soderberg G. Lymphangiosarcoma in chronic hereditary oedema (Milroy's disease). Ann Chir Gynaecol 1989; 78(4):320-323.
[2] Offori TW, Platt CC, Stephens M, Hopkinson GB. Angiosarcoma in congenital hereditary lymphoedema (Milroy's disease)--diagnostic beacons and a review of the literature. Clin Exp Dermatol 1993; 18(2):174-177.
[3] Méndez R, Capdevila A, Tellado MG, Somoza I, Liras J, Pais E, Vela D. Kaposiform hemangioendothelioma associated with Milroy's disease (primary hereditary lymphedema). Journal of pediatric surgery 2003; 38(7):E9-12.
[4] Dürr HR, Pellengahr C, Nerlich A, Baur A, Maier M, Jansson V. Stewart-Treves syndrome as a rare complication of a hereditary lymphedema.Vasa. 2004 Feb;33(1):42-5.