klippelést

Klippel-Feil syndrome, also known as Klippel-Trenaunay syndrome, is a rare genetic disorder characterized by the triad of port-wine stains, varicose veins, and limb overgrowth. It is caused by a mutation in the GNAQ gene, which is involved in the regulation of cell growth and differentiation. The syndrome is named after the French dermatologist Jean-Louis Klippel and the German dermatologist Karl Trenaunay, who first described the condition in the 19th century.

The port-wine stains are flat, red or purple birthmarks that can appear anywhere on the body. They are caused by an overgrowth of blood vessels in the skin. Varicose veins are enlarged, twisted veins that can appear in the legs and arms. They are caused by a weakness in the valves of the veins, which allows blood to flow backward. Limb overgrowth is characterized by an increase in the size of the affected limb, which can be due to an overgrowth of bone, muscle, or both.

Klippel-Feil syndrome is typically diagnosed in childhood, although it can also occur in adults. The diagnosis is usually made based on the presence of the characteristic triad of symptoms. Treatment is primarily focused on managing the symptoms, rather than curing the condition. This may include the use of compression stockings to treat varicose veins, laser therapy to treat port-wine stains, and physical therapy to manage limb overgrowth.

The prognosis for individuals with Klippel-Feil syndrome is generally good, although the condition can cause significant discomfort and disability. With proper management, most individuals with the syndrome are able to lead active, healthy lives. However, there is currently no cure for the condition, and research is ongoing to better understand its underlying mechanisms and develop new treatments.