Milroy's disease
Milroy's Disease
Milroy's disease (pronounced: /ˈmɪlrɔɪz dɪˈziːz/), also known as Milroy's Syndrome or Primary Congenital Lymphedema, is a rare, inherited condition characterized by lymphedema (swelling) in the legs, caused by abnormalities in the lymphatic system.
Etymology
The disease is named after William Milroy, an American physician who first described the condition in 1892.
Symptoms
The most common symptom of Milroy's disease is swelling in one or both legs, often present at birth or developing in infancy. Other symptoms may include upslanting toenails, deep creases in the toes, and cellulitis (skin infection).
Causes
Milroy's disease is caused by mutations in the FLT4 gene, which provides instructions for making a protein involved in the development of the lymphatic system. This is an autosomal dominant condition, meaning an affected person has a 50% chance of passing the disorder to each of their children.
Diagnosis
Diagnosis of Milroy's disease is based on the clinical symptoms, family history, and genetic testing to identify mutations in the FLT4 gene.
Treatment
There is currently no cure for Milroy's disease. Treatment is focused on managing the symptoms and may include compression therapy, manual lymphatic drainage, and in some cases, surgery.
Prognosis
The prognosis for individuals with Milroy's disease varies. Some people may experience mild symptoms, while others may have severe swelling and recurrent infections.
See Also
External links
- Medical encyclopedia article on Milroy's disease
- Wikipedia's article - Milroy's disease
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