Klippel-Trenaunay-Weber syndrome with visceral involvement and portal hypertension

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In 1900, Klippel and Trenaunay published two papers describing a syndrome they termed naevus variqueux ostéo-hypertrophique (naevus vasculosus osteohypertrophicus) characterized by (1) a vascular nevus extending over the lower limb in a segmental distribution, (2) varicosities, limited to the affected side and appearing early in childhood, if not at birth, and (3) hypertrophy of all tissues on the affected side and particularly the bones, which may increase in length, thickness, and width.1, 2 Weber3, 4 independently described a similar constellation of signs in 1907 and again in 1918 consisting of vascular or lymphangiomatous malformation, nevus flammeus, growth disturbances, and arteriovenous fistulae, which he termed hemangiectatic hypertrophy. Since then several authors have suggested combining the two syndromes under the name of Klippel-Trenaunay-Weber (K-T-W) syndrome or the more general term of naevus vasculosus osteohypertrophicus.5, 6 Fortunately, this disorder is rare, and no data exist concerning its exact incidence. We report a case of visceral involvement in K-T-W syndrome, and discuss the life-threatening complications of such involvement as the patient matures.

Case report

A 24-year-old white man was transferred to the Cleveland Clinic in March 1981 with a diagnosis of bleeding esophageal varices. The patient had an extensive nevus flammeus extending over both legs and the genitalia. At eight months of age, one toe of his left foot was excised because of a large hemangioma. At seven years of age he had an operation to curtail the growth of his left great toe, which was hypertrophied; at age 14, varicose veins were excised, . . .



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