Klippel-Trenaunay-Weber syndrome
Incidence
Over 1,000 cases have been reported. Almost all known cases are sporadic. However, a few families with dominant autosomal transmission have been described. Etiology remains unknown.
Clinical Characteristics
This condition is considered a neurocutaneous syndrome or phakomatosis. Hemihypertrophy of the soft and bone tissue, hemangiomata, and varicose veins form the basic triad of this syndrome. Unilateral lesions of the legs with cutaneous and subcutaneous hemangiomas, varicosities, phlebectasis and occasional arteriovenous fistulae were emphasized in earlier reports, but later findings indicate involvement of many other parts of the body. Vascular anomalies may be present at birth or may appear in infancy. Occasional associated abnormalities may include lymphangiomatous anomalies, limb deformities, cutis marmorata, micro- or macrocephaly, eye diseases, and craniofacial deformities. Most patients have normal mentality, except when vascular lesions invade the cerebral tissue. In the absence of arteriovenous fistulae, the syndrome is often referred to as Weber syndrome or Parkes Weber syndrome. Klippel-Trénaunay-Weber syndrome is associated in some cases with Sturge-Weber angiomatosis. The hallmark of Klippel-Trenaunay syndrome is the presence of cutaneous abnormalities in the limbs or trunk associated with underlying soft tissue hypertrophy. Cutaneous abnormalities include capillary angiomatosis, cavernous hemangiomas, pigmented verrucous lesions, hyperhidrosis, and hypertrichosis. The soft tissue hypertrophy results from vascular abnormalities including varicose veins, phlebectasias, lymphangiomas, and arteriovenous malformations. The neurological manifestations of Klippel-Trenaunay syndrome result from intraspinal and intracranial angiomas. Neurological manifestations are infrequent in the neonatal period. Klippel-Trenaunay syndrome has a sporadic occurrence. Klippel-Trénaunay-Weber syndrome is a combination of cutaneous angiomas, varicose veins, hypertrophy of bones and soft tissues and occasionally arteriovenous fistulas. Although the syndrome is usually limited to one limb, it may affect in any other body area. Prognosis is variable and depends essentially on the involved area.
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
It is a clinical diagnosis.