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Hereditary lymphedema is a primary lymphedema – swelling that results from abnormalities in the lymphatic system that are present from birth. Swelling may be present in a single limb, several limbs, genitalia, or the face.
Milroy's disease is also known as primary or hereditary lymphedema type 1A or early onset lymphedema. It is a very rare disease with only about 200 cases reported in the medical literature. Milroy's disease is an autosomal dominant condition caused by a mutation in the FLT4 gene which encodes the vascular endothelial growth factor receptor 3 ...
Meige lymphedema, Late-onset lymphedema, Lymphedema hereditary type 2, [1] Meige disease , or Meige lymphedema is a genetic disorder in which lymphedema later develops. [ 2 ] Meige disease is a primary lymphedema that is not caused by another condition; secondary lymphedema is a typical consequence of a mastectomy .
Primary lymphedema is a form of lymphedema which is not directly attributable to another medical condition. It can be divided into three forms, depending upon age of onset: congenital lymphedema, lymphedema praecox, and lymphedema tarda. [1] Congenital lymphedema presents at birth. Lymphedema praecox presents from ages 1 to 35.
Lymphedema praecox [2] is a condition characterized by swelling of the soft tissues in which an excessive amount of lymph has accumulated, and generally develops in females between the ages of nine and twenty-five. This is the most common form of primary lymphedema, accounting for about 80% of the patients.
Hennekam syndrome, also known as intestinal lymphagiectasia–lymphedema–mental retardation syndrome, [1] is an autosomal recessive disorder consisting of intestinal lymphangiectasia, facial anomalies, peripheral lymphedema, and mild to moderate levels of growth and intellectual disability.
The genetic cause is unknown, but it is autosomal recessively inherited and the gene is located to chromosome 15q 1,2. A common feature of the condition is a generalised lymphoedema from birth or childhood caused by hypoplasia of the lymphatic vessels in origin 1. Approximately one hundred people with this disease are known. [3]
Elephantiasis, often incorrectly called elephantitis, is the enlargement and hardening of limbs or body parts due to tissue swelling (). [1] [2] It is characterised by edema, hypertrophy, and fibrosis of skin and subcutaneous tissues, due to obstruction of lymphatic vessels (). [2]