Klippel-Trénaunay syndrome, also called KTS, is a rare disorder that is diagnosed at birth (congenital) and consists of abnormal development of blood vessels, soft tissues (such as skin and muscles), bones. , and the lymphatic system.

Key features include a birthmark (port wine stain on the skin), excessive tissue and bone growth, and venous malformations with or without lymphatic abnormalities.

Although there is no cure for this syndrome, the goal is to control symptoms and prevent complications.

SYMPTOMS

It is possible that people with Klippel-Trénaunay syndrome have the following characteristics, which can range from mild to more extensive:

   ●  Flat hemangiomas

Pink to reddish-purple birthmark produced by additional tiny blood vessels (capillaries) in the upper layer of the skin. It usually covers part of a leg, but can appear on any area of the skin and darken or lighten over the years.

   ●  Venous malformations

They are swollen and twisted veins (varicose veins) that usually appear on the surface of the legs. Deeper abnormal veins may also appear in the arms, legs, abdomen, and pelvis. Venous abnormalities may be more prominent with age.

   ●  Excessive growth of bones and soft tissue

It begins in childhood and usually appears on one leg, but can also manifest on one arm or, occasionally, on the trunk or face. This excessive growth of bone and tissue creates a larger, longer limb. Occasionally, fused or additional fingers may be found.

   ●  Lymphatic system abnormalities

Lymphatic vessels may not function properly and may cause leakage and swelling.

   ●  Other hobbies

Cataracts, glaucoma, hip dislocation at birth, and blood clotting problems.

WHEN TO CONSULT A DOCTOR

Klippel-Trénaunay syndrome is usually identified at birth. It is important to get a quick and accurate diagnosis, and the right medical care to treat the symptoms and prevent complications.

CAUSES

It comprises genetic changes (mutations), usually in the PIK3CA gene. These genetic changes are responsible for the development of body tissues and cause excessive growth. It is usually not hereditary. Genetic mutations occur at random during cell division in the early stages of development before birth.

RISK FACTORS

Family history does not appear to be a risk factor, so parents of a child with Klippel-Trénaunay syndrome are unlikely to have another child with the disorder, even if one parent has it.

COMPLICATIONS

They can be due to the abnormal development of blood vessels, soft tissues, bones and the lymphatic system. These can be as follows:

   ●  Complications of flat hemangiomas

   ●  Venous malformations, giving rise for example to ulcers, deep vein thrombosis which can lead to a "pulmonary embolism". Venous malformations in the pelvis and abdominal organs can cause internal bleeding. Superficial veins may present with less severe but painful clots and inflammation (superficial thrombophlebitis).

   ●  Excessive growth of bones and soft tissue. It can cause pain, heaviness, enlarged limbs, and trouble moving.

   ●  Lymphatic system abnormalities (lymphedema, lymphatic cysts or cellulite).

   ●  Chronic pain.