Milroy disease

Milroy disease (pronounced: mil-roy dis-ease) is a rare, inherited condition that primarily affects the lymphatic system. The lymphatic system is a network of vessels and specialized tissues that are essential for maintaining the fluid balance and producing immune cells in the body.

Etymology

The disease is named after William Milroy, an American physician who first described the condition in 1892.

Definition

Milroy disease, also known as primary lymphedema, is characterized by swelling (lymphedema) that generally occurs in the lower limbs, often from birth or during infancy. The swelling is caused by an accumulation of lymph fluid, which can lead to various health problems if not treated properly.

Symptoms

The most common symptom of Milroy disease is persistent swelling in the legs and feet. Other symptoms may include upslanting toenails, deep creases in the toes, and abnormal growth of the affected limbs. In some cases, individuals with Milroy disease may also experience recurrent skin infections or cellulitis in the affected areas.

Causes

Milroy disease is caused by mutations in the FLT4 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of the lymphatic system. Mutations in the FLT4 gene disrupt the normal function of the lymphatic system, leading to the characteristic symptoms of Milroy disease.

Treatment

There is currently no cure for Milroy disease. Treatment is focused on managing the symptoms and preventing complications. This may include the use of compression garments, manual lymphatic drainage, and in some cases, surgery.

Related Terms

• Lymphatic system
• Primary lymphedema
• Cellulitis
• FLT4 gene

External links

• Medical encyclopedia article on Milroy disease
• Wikipedia's article - Milroy disease

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