Description of Klippel-Trenaunay Syndrome
Symptoms
The K-T syndrome is a rare congenital malformation that may include the
following:
-
Port-wine stain or "birthmark" (cutaneous capillary malformations)
-
Soft tissue and bony hypertrophy (excessive growth of the soft tissue and
/or bones)
-
Venous malformations & lymphatic abnormalities
Complications may include bleeding, cellulitis, venous thrombosis, or pulmonary
embolism. Associated abnormalities in other systems, such as gigantism
of toes, hand and feet anomalies, lymphedema, or involvement of the abdominal
and pelvic organs may also occur.
K-T usually is limited to one limb, but may occur in multiple limbs
and/or head or trunk area. Internal organs may be involved. Each case of
K-T is unique and may exhibit the above characteristics to differing degrees.
Etiology
The etiology of Klippel-Trenaunay Syndrome is unknown. One theory is that
K-T may be caused by mesodermal abnormalities during fetal development
Another medical opinion suggests the cause may be the result of mutation
of a gene.
Treatment
There is no known "cure" for the K-T Syndrome. Conservative treatment of
the symptoms seems to be the most effective, without significant side effects.
For example, elastic garments and pumps often relieve the effects of lymphedema
.The elastic garment is also helpful in protecting the limb from trauma
and decreasing the chances of bleeding from the hemangioma. Laser therapy
may reduce or eliminate port-wine stains. Surgical procedures may be necessary
to debulk excessive tissue, to excise veins or hemangiomatous tissue or
to correct uneven growth in limbs (epiphyseal arrest), for example.
Computed Axial Tomography (CAT) and Magnetic Resonance Imaging (MRI)
scans, and color doppler studies are useful in determining the scope of
the syndrome and how best to manage it.
Terminology
The medical community at times has used the terms Klippel-Trenaunay Syndrome
and Klippel-Trenaunay-Weber Syndrome interchangeably. The consensus today
is to distinguish K-T as hypertrophy and varicosity associated with port-wine
staining; K-T-W ( more correctly called Parkes- Weber Syndrome) is similar
but includes significant arteriovenous malfomations with shunting.
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