Skin Disorders

Skin Disorders

Skin disorders cover a wide range of conditions, some benign, some very serious, and some even a sign of another underlying illness. A skin disorder not only affects your physical health, but also your emotional well-being.

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Skin CareSkin Disorders › Klippel Trenaunay Syndrome

Klippel Trenaunay Syndrome

Klippel trenaunay syndrome is characterized superficially by a patchy port-wine stain on an extremity that overlies a combined venous and lymphatic malformation with associated bony enlargement. This bony enlargement usually is not present at birth, but may appear within the first few months or years of life. It may become a problem particularly during puberty. The anomaly may be involving a single extremity or more than one as well as the face or trunk. There may be periods of rapid enlargement and then cessation of growth.

Causes of Klippel trenaunay syndrome

KTS is an association of soft tisssue and bone hypertrophy, cutaneous hemangiomas and superficial varicosities. Klippel-Trenaunay-Wever Syndrome (KTWS) is the association of KTS with arterio-venous fistulae. KTS and KTWS are due to a congenital malformation of the deep venous system with agenesis, hypoplasia or segmental atresia. The etiology is not clear but the syndrome is most likely the result of a diffuse mesodermal abnormality.

Signs and symptoms of Klippel trenaunay syndrome

Klippel trenaunay syndrome is a rare congenital malformation that may include the following:

  • Soft tissue and bony hypertrophy (excessive growth of the soft tissue and /or bones).
  • Port-wine stain or "birthmark" (cutaneous capillary malformations).
  • Venous malformations & lymphatic abnormalities

How is Klippel-Trenaunay syndrome diagnosed?

KTS malformations can be seen on prenatal ultrasounds and are obvious at birth. Diagnostic tools such as CT scans and MRIs are used to determine the extent of the problem and the tissues involved.

Treatment for Klippel trenaunay syndrome

KTS is not life-threatening. Limb enlargement progresses very rapidly until it suddenly stops. The risk of infection is often higher in individuals with vascular abnormalitie. There is no cure for KTS. Treatment is symptomatic. Laser surgery can diminish or erase some skin lesions. Surgery may correct discrepancies in limb size, but orthopedic devices may be more appropriate. Treatment of the symptoms is the most effective therapy. These treatments may include:

  • Compression garments (worn on the affected limb) to reduce pain and swelling
  • Surgery to correct uneven limb growth
  • Laser therapy to lighten or eliminate port wine stains
  • Surgery to remove problematic veins.
 

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