Hypertrophy of the lower limbs with cutaneous naevus and varicose veins.

The occasional occurrence of hypertrophy of a limb associated with cutaneous naevi or haemangiomata, together with congenital or developmental defects of the arteries and veins, has long been recognized. In 1858 Adams described a 'singular case of Hypertrophy of the Right Lower Extremity with Superficial Cutaneous Naevus of the Same Side.' This appears to be the first description of such a condition in English. Trelat and Monod (1869) in their treatise on unilateral hypertrophies of the limbs, recognized the association of hypertrophy of the bones of one leg with cutaneous naevi and varicosities of the veins of the affected limb. The limitation of the vascular anomalies to the abnormally long limb led them to believe that the two had a common developmental origin. Under the title Du naevus variqueux osteohypertrophique, Klippel and Trenaunay (1900) described a condition the main features of which were: (1) A superficial naevus of the lower limb, (2) varicosities of the veins on the same side as the naevus, (3) hypertrophy of the affected lower limb, involving the soft and bony tissues, overgrowth of the skeleton being especially prominent. It was thought possible that these anomalies had a common congenital origin. In his classical paper, Parkes Weber (1918) described the association of congenital or developmental hypertrophy of the limbs with dilatation of the arterial and venous trunks. He collected several examples of this condition from the literature, to which the collective name of 'haemangiectatic hypertrophy ' was given. This type of enlargement he differentiated from congenital trophoedema of the Nonne-Milroy-Meige type and also from that met with in simple hemihypertrophies of the limbs. In the latter, cutaneous naevi or haemangiomata are by no means uncommon, but there is no abnormality of the arteries or veins of the affected limbs. The condition of dilatation of arteries and veins has been given the pathological appellation of 'congenital or developmental phlebarteriectasis,' of which several clinical varieties have been recognized. In the most extreme form a free anastomosis may exist between dilated arteries and veins. In a less severe form, to which the term ' genuine diffuse phlebarteriectasis' has been applied, there is no abnormal communication between the dilated arteries and veins. When the arteries are little affected, the dilatation being confined mainly to the veins, the condition is called ' genuine diffuse phlebectasis.' This last group may be considered to be one variety of congenital varicose veins in contrast to that caused by congenital obstruction in a main venous trunk. In all these types of haemangiectatic hypertrophy, cutaneous naevi or haemangiomata are commonly but not invariably present. The condition described by Klippel and Trenaunay in which the veins alone are affected is probably best considered to be a member of the larger group of haemangiectatic hypertrophies. This syndrome appears to be closely related to, if not identical with, genuine diffuse phlebectasis or congenital varicose veins. It is interesting that in the earlier descriptions of congenital varicose veins, hypertrophy and cutaneous naevi are frequently mentioned as incidental findings (Champendal, 1900, and Besson, 1919, quoted by Lian and Alhomme, 1945). Since the publication of Parkes Weber's paper in 1918 several examples of hypertrophy of limbs associated with vascular abnormalities have been recorded. Paterson and Wyllie (1925) described a case of hypertrophy of the bones of a limb due to a naevus. Under the title of 'haemangiectatic hypertrophy' cases have been described by Beatty (1927), Gray (1928), East (1932), Blumgart and Ernstene (1932), and Reichenheim (1943). Gougerot and Filliol (1929) described a case under the title Naevus variqueux ostjohypertrophique de Klippel ou Hirmangiectasie de Parkes Weber. They also collected six earlier cases from the French literature.