A rare presentation of Klippel-Trenaunay syndrome

Abstract

The Klippel-Trenaunay syndrome (KTS) is a congenital disorder characterized by capillary malformation, varicosities and bony and soft tissue hypertrophy. This disease has several morbidities like bleeding, deep venous thrombosis, embolic complications and in some cases enlargement of limb that may require amputation. Vascular malformations are segmented and never cross midline. However, we came across a case, a 45-year-old male, who presented with varicosity of veins and deformity of left lower limb besides cavernous hemangiomas (port-wine stains) scattered all over his face, chest, back, gluteal region, groin and legs since birth. Multiple paravertebral soft tissue masses and bladder hypertrophy were also noted due to involving neurofibromatosis. Simultaneous occurrence of KTS and neurofibromatosis is rarely seen in clinical practice.

Klippel Trenaunay syndrome in a 3-year-old: A case report

“…The exact etiology of KTS is still unknown however genetic study of cases of KTS have revealed that there is a gain of function somatic mutation in PIK3CA gene in a mosaic pattern causing excessive proliferation of vascular tissue leading to capillary, venous and lymphatic malformations involving only some part of the body [7] , [8] . While portwine stain is present since birth, varicose veins may not be evident until child starts weight bearing and becomes aggravated only during adolescence reflecting hormonal influence over vascular proliferation [9] .…”

Soft tissue angiosarcoma of the breast in a patient with Klippel-Trenaunay-Weber syndrome

“…The existence of arteriovenous fistulas is another important feature of this syndrome and can be detected by the presence of a pulsatile mass or thrill on physical examination. Limb hypertrophy can be secondary to bone or soft tissue involvement; it is usually present at birth and progresses as the patient ages 13 .…”

Current concepts of vascular anomalies

“…These conditions are often unilateral, never crossing the midline, but can occur anywhere on the body. They are most commonly found on the face and in the cervical region [ 70 ]. KTS is a vascular disorder characterized by overgrowth, which is believed to stem from somatic mutations in the phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha gene [ 71 ].…”