Klippel-Trenaunay syndrome:
The main characteristics include a red birthmark (port-wine stain), overgrowth of tissues and bones, and vein malformations with or without lymphatic abnormalities. this is a rare disorder found at birth (congenital), involving abnormal development of blood vessels, soft tissues (such as skin and muscles), bones, and the lymphatic system.
Symptoms
- Port-wine stain.The birthmark usually covers part of one leg, but it can affect any area of the skin and can get darker or lighter with age. It is caused by extra tiny blood vessels (capillaries) in the top layer of skin.
- Vein malformations.These include varicose veins, which are swollen, twisted veins that typically appear on the surface of the legs, as well as deeper abnormal veins that can appear in the arms, legs, abdomen, and pelvis. Venous abnormalities may also appear as spongy tissue filled with tiny veins in or beneath the skin. These conditions may worsen with age.
- Overgrowth of bones and soft tissue.This overgrowth of bone and tissue creates a larger and longer extremity, usually affecting one leg, but can also, very rarely, affect the trunk or face. It usually starts in infancy. Rarely, fusion of fingers or toes, or having extra fingers or toes, occurs.
- Lymphatic system abnormalities.There can be abnormalities in the lymphatic system, a component of the immune system that defends against infection and disease and transports lymphatic fluid, such as the presence of extra lymphatic vessels that are dysfunctional and can cause leakage and swelling.
- Other conditions.birth defects of the hip, blood clotting issues, cataracts, and glaucoma.
Causes
The PIK3CA gene, which is most frequently affected by genetic changes (mutations) in Klippel-Trenaunay syndrome, is in charge of controlling how tissues develop in the body, leading to overgrowth.
The gene mutations that cause KTS typically happen at random during cell division in the period of early development prior to birth.
Risk factors
No risk factors seem to be associated with family history,
Contrarily, even if one parent has Klippel-Trenaunay syndrome (KTS), it is likely that the other parent will also give birth to a child who has the disorder.
Complications
Klippel-Trenaunay syndrome complications can be brought on by the lymphatic system, soft tissues, bones, and blood vessel abnormalities;
- Port-wine stain complications.Over time, the port-wine stain may thicken in some spots and develop into infected, bleedable blisters (blebs).
- Vein malformations.Due to poor circulation, varicose veins can cause severe pain and skin ulcers. Deeper abnormal veins can increase the risk of blood clots (deep vein thrombosis) and, if they dislodge and travel to the lungs, can result in the life-threatening condition pulmonary embolism. Venous malformations in the pelvis and abdominal organs can cause internal bleeding. Superficial veins can develop less serious but still uncomfortable blood clots and inflammation (super
- Overgrowth of bones and soft tissue.A leg that is longer than the other due to excessive bone and tissue growth can make it difficult to walk and increase the risk of hip and back problems.
- Lymphatic system abnormalities.The development of small masses (lymphatic cysts) in the spleen, leakage of lymphatic fluid, or cellulitis, an infection of the layer under the skin, can all be brought on by abnormalities. Lymphedema, skin breakdown and ulcers can also be brought on by abnormalities.
Chronic pain. Pain can be a common problem that results from complications such as infections, swelling or vein problems.Fluoric acid HOMOEOPATHIC TREATMENT:
-Lycopodium
-Staphysagria
-Vipera berus
Pulsatilla pratensis, among others
Comments are closed.