Yesterday, a patient from Xuzhou with K-T syndrome underwent varicose vein resection. Today is Saturday, I came to see the patient in the afternoon and have been down and moving around, the lower limbs are now not swollen and are recovering. The patient, a 12-year-old girl, had found varicose veins on her left outer thigh for years, so young that her varicose veins were mainly on her inner calf, while others had varicose veins on her outer leg, both on her thigh and calf. Her parents took her to the hospital for an examination and found that her left leg was slightly longer than the opposite measurement, and there were wine-like discoloration on her leg, so she was diagnosed with K-T syndrome. Professor Zu Maoheng of Xuzhou Medical College referred the patient to me for treatment. Fortunately, the patient’s deep veins and large and small saphenous veins were fine, and no obvious arteriovenous fistula or hemangioma masses were found, although the lateral varicose veins were severe but could still be surgically removed. K-T syndrome is a congenital developmental anomaly, also known as vascular-bone hypertrophy syndrome, and is described in detail below.
Angio-osteohypertrophicsyndrome
Synonym
Klippel-Trenaunay-Weber syndrome, Parkes-Weber syndrome, olier-Klippel-Trenaunay syndrome, Weber(FP) syndrome, hypertrophic vasodilatation, hypertrophic nevus, nevus-osteohypertrophy, hypertrophic nevus syndrome, vascular-osteohypertrophic syndrome , proliferative vasodilatation, cutaneous spinal cord hemangioma.
Origin and development
The syndrome was first described by Klippel and Trenaunay in 1900, and a similar case was reported by ParkerWeber in 1907. This condition, characterized by vascular nevus, varicose veins, limited hypertrophy of the soft tissues and bones of the affected limbs, and ocular abnormalities, is now named vascular-bone hypertrophy syndrome.
Pathogenesis
The etiology is unknown. It is irregularly dominant in different phenotypes, with recessive inheritance seen in consanguineous patients. It may be associated with a hereditary weakening of the interstitial tissue of the vascular wall and is considered to be a hemangioma and a vascular malformation. The pathogenesis is also based on the vascular theory, the neurological theory and the embryonic developmental abnormalities theory.
Clinical presentation
Klippel-Trenaunay suggested that this syndrome has three main symptoms: (1) segmental distribution of vascular nevi throughout the lower extremities. (ii) Early varicose veins that appear from birth or infancy and are confined to the affected side alone. (iii) Hypertrophy of all damaged tissues on the affected side, especially bone tissue, which increases in size, length, width and thickness.
Mullins summarized the following manifestations.
(1) Vascular anomalies: ① erythema; ② congenital arteriovenous nevus; ③ capillary hemangioma; ④ cavernous hemangioma; ⑤ congenital varicose veins; ⑥ lymphangioleioma; ⑦ any combination of the above.
(2) Nutritional changes of soft tissue and bone: 1 soft tissue hypertrophy or atrophy; 2 bone tissue hypertrophy or atrophy.
(3) Comorbidities: 1) edema; 2) phlebitis; 3) embolism; 4) compensatory curvature of the spine or hip injury due to excessive length or shortening of the affected limb; 5) dysfunction of the affected area; 6) stasis dermatitis; 7) ulceration; 8) various types of decalcification of the damaged bone; 9) excessive sweating at the damaged area; 10) hypertension; and 11) sensory abnormalities.
Ocular manifestations include unilateral congenital glaucoma, ocular entrapment, conjunctival capillary dilation, iris defect, retinal varicose veins and choroidal hemangioma.
Diagnosis
The KTS triad is mostly described as.
(1) Epidermal capillary malformations (usually wine-colored spots), mostly focal in one limb, not necessarily involving the entire limb completely, and occasionally can be present in areas other than the hypertrophic side of the limb.
(2) Varicose veins and malformations, usually with residual embryonic veins on the lateral side of the limb, may be absent without deep venous malformations.
(3) Bone and soft tissue hyperplasia and hypertrophy, which may involve both limbs. The hyperplasia does not necessarily have to be growth and thickening, but may be only a thickening of the bone cortex and increased bone density, while soft tissue hyperplasia may also be unremarkable. The diagnosis is made when any two of the above features are met. If the diagnosis is difficult, X-ray examination has special diagnostic significance and can reveal the growth and thickening of bone tissue on the affected side.
Differential diagnosis
This syndrome should be differentiated from Nonne-Milroy-Meige syndrome.
Treatment
Treatment should be individualized according to the presentation of each patient. For example, elastic bandages or circulating decompression stockings are suitable for mild symptoms or as an adjunctive treatment after surgical treatment. In case of spinal cord compression or subarachnoid hemorrhage, corresponding treatment should be done.
Prognosis
The prognosis is good if treated promptly. However, in cases of spinal cord compression or subarachnoid hemorrhage, or in cases of limb necrosis or heart failure, improper management can have serious consequences.