Naevus varicosus osteohypertrophicus. An early diagnostic approach.

Naevus varicosus osteohypertrophicus (synonym Klippel-Trenaunay Syndrome KTS) is relatively rare circumscribed, usually quadrant-related gigantism with vascular hyperplasia or malformations based on the embryonic development. The authors observed an 18- and a 30-year-old female with a triad of symptoms: cutaneous nevus flammeus, varicose and dilated veins, and bony and soft tissue hypertrophy of the low limb. The second patient also had two venous ulcers as a dominant clinical feature--a rare manifestation of Klippel-Trenaunay syndrome. A diagnosis of Klippel-Trenaunay syndrome was made by clinical observations, laboratory findings, dermoscan, radiological examination of the bones of the limb, Doppler ultrasonography, photopletismography and venoscan. A bone isotope scan was also done to the first patient. Making an early diagnosis of this sporadic congenital disease with unknown aetiology is important in order to be able to provide early prophylactic and therapeutic measures. Klippel and Trenaunay in 1900 were the first to describe a patient with the simultaneous appearance of osteohypertrophy, hemangiomas and varicose veins involving one extremity [1]. In 1907 Parkes and Weber reported a similar syndrome--they described a patient who had dilated and pulsatile arteries in the affected region including the presence of arterio-venous communications. In 1918 they used the compromise term "haemangiectatic hypertrophy" to embrace all conditions which were associated with congenital vascular malformations including A-V anastomoses associated with bone and soft tissue hypertrophy. Most authors are agreed that Klippel-Trenaunay syndrome and the syndrome of multiple congenital arterio-venous fistulae are two separate features of the Parkes Weber hypertrophy. KTS is manifesting with a triad of symptoms: cutaneous vascular nevus (more frequently nevus flammeus type), superficial venous varicosities and hypertrophy of the affected limb. Usually one quadrant of the body is involved: quite often a leg, an arm, lateral side of the trunk, very rarely the face. More than one quadrant and bilateral involvement are rarely affected. Naevus flammeus appeared at birth. It is extremely variable both in extent and in color--the latter ranging from pale pink to deep purple. Veinous varicosities appear in childhood and adolescence. They are painful and may be complicated by superficial or deep venous thrombosis and rarely, ulceration. Hypertrophy of the affected extremities is due to bone and soft tissue hypertrophy. KTS can be associated with other developmental anomalies such as: polydactyly, syndactyly, oligodactyly [2] macrocephaly, blue nevus, epidermal naevus, venous malformations.