Milroy's Disease

Milroy's Disease Milroy disease is a rare disease that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Disorders of lymphatic fluid transport and accumulation of lymphatic edema occur. Individuals with Milroy's disease usually develops swelling in the legs shortly after birth. They typically appear on both halves of the body and does not advance with the times. In addition to lymphatic edema, Milroy's disease patients may be born with fluid in the scrotum (hydrocele) or malformation of the urethra (the tube that carries urine from the bladder to the urethra, outside). Other symptoms may be prominent veins in the legs, toes in the upward position, excresecente veruciforme. Some patients may be a skin infection called cellulitis noncontagious, which damage the lymphatic vessels. This type of cellulite is more likely in men than in women and intensify the process of lower limb edemas emerge. 70-80% of individuals with Milroy disease are women.
Etiology Milroy disease occurs due to a defect in development of lymphatic vessels in the uterus. At the cellular level, Milroy disease is associated with a gene mutation FLT4, which is intended to encode information to produce a protein called "receiver three vascular endothelial growth factor (VEGFR-3). This protein regulates and supports the development of the lymphatic system. FLT4 gene mutations affect the growth, development and survival of lymphoid cells. Given that small or absent lymphatic vessels, lymph is not appropriate transporter and is stored in body tissues as lymph edema. Since it is not known how the mutation condition other pathological manifestations of the disease. Not all individuals with Milroy disease FLT4 shows a gene mutation. If their condition is unclear etiology.
Clinical The clinical characteristics of Milroy's disease are: - Swelling that occurs at birth, are firm to the touch, and it covers the skin temperature is high. While the feeling of wood can occur in the area, signaling the progressive tissue fibrosis. - The lower extremity is involved preferentially the right foot. Edema usually appear on the dorsal foot and do not extend beyond the knee; - Patients can present cellulitis, papillomatosis, large caliber veins in the legs; - In males, hydrocele is the second most common characteristic sign (after swelling); - Usually, one or more family members had congenital lymphatic edema; - Can sometimes appear behind the toes xanthomas veruciforme bleeding.
Diagnosis Basic clues that suggest the diagnosis of Milroy's disease are the presence of edema in the legs and relevant family history (family related cases). Currently, diagnosis of certainty arises with an investigation called limfoscintigrafie, which consists of a radioactive substance in infection state and its distribution on a computer tracking to identify the exact location of lymphatic blockage.
Treatment The type of treatment most often practiced in Milroy's disease is the decongestant. There is no specific treatment but the condition can be controlled if diagnosed early and treated appropriately to prevent complications: infection, pain, skin problems, and in rare cases limfangiosarcoame, vertebral anomalies, cerebrovascular malformation.
Prognosis Long-term prognosis is very good, provided it is diagnosed on time and to institute appropriate treatment immediately.