Milroy disease

Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Abnormal transport and accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease usually develop lymphedema in their lower legs and feet soon after birth. The lymphedema typically occurs on both sides of the body and does not worsen over time.

Milroy disease is associated with other features in addition to lymphedema. Males with Milroy disease are sometimes born with an accumulation of fluid in the scrotum (hydrocele) or abnormalities of the tube that carries urine from the bladder to the outside of the body (urethra). People of both genders may have upslanting toenails, deep creases in the toes, wart-like growths (papillomas), and prominent leg veins. Some individuals develop a non-contagious skin infection called cellulitis, which can damage the thin tubes that carry lymph fluid (lymphatic vessels). Cellulitis is more common in males than in females and causes further swelling in the lower limbs.

Milroy disease is a rare disorder; its incidence is unknown.

Mutations in the FLT4 gene cause some cases of Milroy disease. The FLT4 gene provides instructions for producing a protein called vascular endothelial growth factor receptor 3 (VEGFR-3), which regulates the development and maintenance of the lymphatic system. Mutations in the FLT4 gene interfere with the growth, movement, and survival of lymphatic cells. These mutations lead to the development of small or absent lymphatic vessels. If lymph fluid is not properly transported, it builds up in the body's tissues and causes lymphedema. It is not known how mutations in the FLT4 gene lead to the other features of this disorder.

Many individuals with Milroy disease do not have a mutation in the FLT4 gene. In these individuals, the cause of the disorder is unknown.

Read more about the FLT4 gene.

Milroy disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the FLT4 gene. These cases occur in people with no history of the disorder in their family. About 10 percent to 15 percent of people with a mutation in the FLT4 gene do not develop the features of Milroy disease.