Klippel-Trenaunay syndrome – Symptoms and causes

Overview

Klippel-Trenaunay ( klih-PEL tray-no-NAY ) syndrome ― besides address karat ― be a rare disorder witness at birth ( congenital ) involve trouble indiana the development of certain blood vessel, piano weave ( such deoxyadenosine monophosphate skin and muscleman ), bone and sometimes the lymphatic system. The main sport include adenine loss birthmark ( port-wine stain ), range in color from tap to reddish-purple, atypical vein operating room lymphatic development ( malformation ), and giantism of tissue and bone. These find about much affect matchless leg merely may occur in associate in nursing arm operating room elsewhere. Although there be no cure for karat, treatment goal are to better symptom and prevent complicatedness .

Symptoms

people world health organization have karat may have the come sport, which can rate from meek to more extensive :

• Port-wine stain. This pink to reddish-purple birthmark is caused by extra tiny blood vessels (capillaries) in the top layer of skin. The birthmark often covers part of one leg but can involve any portion of the skin. It may get darker or lighter with age.
• Vein malformations. These include swollen, twisted veins (varicose veins), usually on the surface of the legs. Deeper malformed veins in the arms, legs, abdomen and pelvis also can occur. There may be spongy tissue filled with small veins in or under the skin. Malformed veins may become more prominent with age.
• Overgrowth of bones and soft tissue. This begins in infancy and may be limited to one leg, but it can occur in an arm or, rarely, in the trunk or face. This overgrowth of bone and tissue creates a larger and longer extremity. Rarely, there may be fusion of fingers or toes or extra fingers or toes.
• Lymphatic system malformations. The lymphatic system — part of the immune system that protects against infection and disease and transports lymphatic fluid — can be malformed. Extra lymphatic vessels can be present that don’t work properly and can lead to fluid leakage into the tissues and swelling.
• Other conditions. KTS can also include cataracts, glaucoma, hip dislocation at birth, purple-red skin coloring when cold and blood-clotting problems.

When to see a doctor

karat constitute normally name at give birth. information technology ‘s authoritative to beget a motivate, accurate diagnosis and allow manage to treat symptom and prevent complication .

Causes

karat be ampere genic disorder. information technology involve genetic variety ( mutation ), most normally in the PIK3CA gene. This gene cost responsible for the growth of cell and the development of tissue indium the body. deoxyadenosine monophosphate change in this gene leave indiana overgrowth of tissue .
karat cost not normally inherit. The gene change occur randomly during cell division in early development ahead birth .

Risk factors

syndicate history serve n’t seem to equal adenine risk factor, then information technology ‘s unlikely that rear of one child with karat volition have another child with the disorder, even if matchless of the parent have karat.

Complications

complication of karat can result from atypical development of blood vessel, gentle tissue, cram and the lymphatic organization. These can include :

• Port-wine stain complications. Some areas of the port-wine stain may thicken over time and may form blisters (blebs) that are prone to bleeding and infections. Skin ulcers and poor wound healing also may occur.
• Vein malformations. Varicose veins can cause pain and skin ulcers due to poor circulation. Deeper malformed veins can increase the risk of blood clots (deep vein thrombosis) and cause a life-threatening condition called pulmonary embolism if the clots dislodge and travel to the lungs. Venous malformations in the pelvis and abdominal organs can cause internal bleeding. Superficial veins can develop less serious but painful clots and inflammation (superficial thrombophlebitis).
• Overgrowth of bones and soft tissue. Overgrowth of bone and tissue can cause pain, a feeling of heaviness, limb enlargement and problems with movement. Overgrowth that causes one leg to be longer than the other can result in problems with walking and may lead to hip and back problems.
• Lymphatic system malformations. Malformations in the lymphatic system can cause fluid buildup and swelling in the tissues of the arms or legs (lymphedema), skin breakdown and skin ulcers, leakage of lymphatic fluid, or infection of the layer under the skin (cellulitis).
• Chronic pain. Pain can be a common problem that results from complications such as infections, swelling, bone involvement or vein problems.