Klippel-Trenaunay syndrome (KTS) is a rare slow-flow congenital vascular disorder with an incidence of 1:100,000. 1 , 2 KTS is classically characterized by a clinical triad of capillary malformation, venous malformation, and bony or soft tissue hypertrophy. RAD50 and POLE genes act directly on deoxyribonucleicacid (DNA) and genome stability. Although distinct from the more studiedphosphatidylinositol-4,5-bisphosphate3-kinase catalytic subunit alpha (PIK3CA)gene, RAD50 and POLE genes coexist as a deficient gene in few vascular malformations and papillary thyroid carcinoma (PTC).

This is a case of a 7-month-old Filipino female patient clinically and radiologically diagnosed as KTS presenting with multiple capillary malformations and left limb length-girth discrepancies. Dermoscopy showed various vessel patterns in all affected areas. Soft tissue ultrasound and magnetic resonance imaging/angiography (MRI/MRA) of the left extremities revealed subcutaneous capillary malformations, hypertrophy of the subcutaneous structures and compartment muscles. Strong family history of PTC was elicited and genetic sequencing revealed detected RAD50 and POLE genes. She was treated using the mammalian target of rapamycin inhibitor sirolimus with careful monitoring of trough levels and radiographic tests. A significant outcome one year post-sirolimus revealed no abnormal vessels on ultrasound, a lesser degree of hypertrophy and capillary malformations were no longer appreciated in MRI/MRA of left extremities. Port-wine stains (PWS) and affected limbs showed a decrease in erythema and growth rate during the treatment period.

KTS detected with RAD50 and POLE genes successfully treated with sirolimus with trough-level monitoring. Radiographic evaluation and regular anthropometric assessment remain valuable in the diagnosis and monitoring.

Klippel-Trenaunay syndrome (KTS) is a rare disorder characterized by a triad of abnormal bone and soft tissue growth, the presence of a port-wine stain, and venous malformations. Gastrointestinal (GI) manifestations of KTS are relatively common and generally do not cause significant problems. However, persistence can lead to chronic GI blood loss or even massive bleeding in rare cases. The majority of the severe GI manifestations associated with KTS present as vascular malformations around the GI tract and exposed vessels can lead to serious bleeding into the GI tract. Herein, we report a case of a 16-year-old boy with severe iron deficiency anemia who was previously misdiagnosed as hemorrhoid due to small amount of chronic bleeding. The actual cause of chronic GI bleeding was from an uncommon GI manifestation of KTS as rectal polyposis.]]>
Adolescent ; Anemia, Iron-Deficiency ; Gastrointestinal Hemorrhage ; Gastrointestinal Tract ; Hemorrhage ; Hemorrhoids ; Humans ; Klippel-Trenaunay-Weber Syndrome ; Male ; Polyps ; Port-Wine Stain ; Vascular Malformations

No abstract available.
Anal Canal* ; Klippel-Trenaunay-Weber Syndrome*

PURPOSE: Varicose veins requiring operative treatment have been more common recently, but there are not enough studies among children dermographics because most patients belong to the adult population. We concentrated on varicose vein of under 18 years old, and here intend to report cases of our clinical experiences. METHODS: From January 2003 until December 2014, there were 6 children under 18 years old who required varicose vein management. Data was collected by the investigation of medical records retrospectively, including preoperative symptoms, diagnostic tools, treatment methods, results of treatment, and complications. RESULTS: The mean age was 11 years (range, 3-17 years), and gender ratio was 1:2 (2 male, 4 female). The involved legs were on the right in 3 cases, on the left in 2 cases, and on both in 1 case. The most common symptoms were venous bulging and tortuosity in 6 cases, and other symptoms were Klippel-Trenaunay-Weber syndrome in 2 cases, pain and fatigue in 1 case, port-wine stain in 1 case, and telangiectasia in 1 case. Duplex sonography was performed to confirm venous reflux in all cases. The additional venography was performed to check for anatomical variation in 1 case, and three-dimensional CT in 2 cases. Treatments were high ligation and stripping in 3 cases, and endovenous laser therapy in 3 cases. Additionally, remnant varicosities after first operations were treated by endovenous laser therapy in all cases. During the mean postoperative follow-up period of 60 months, complications included edema of the foot and petechia in 2 cases each, and were not severe. CONCLUSION: Operative treatments including high ligation and stripping, and endovenous laser therapy are very effective for the management of varicose vein in the pediatric population, with improvements in quality of life including relief of symptoms and management of the cosmetic aspect.
Adult ; Child ; Edema ; Fatigue ; Follow-Up Studies ; Foot ; Humans ; Klippel-Trenaunay-Weber Syndrome ; Laser Therapy ; Leg ; Ligation ; Male ; Medical Records ; Phlebography ; Port-Wine Stain ; Quality of Life ; Retrospective Studies ; Telangiectasis ; Varicose Veins*

BACKGROUND: The Klippel-Trenaunay syndrome (KTS) is characterized by three clinical features, namely cutaneous capillary malformations, venous malformations, and soft tissue and/or bony hypertrophy of the extremities. The varied manifestations are attributed to the unpredictable clinical nature and prognosis of the syndrome. To elucidate the clinical characteristics of this disease, we reviewed a relatively large number of KTS patients who presented to our vascular anomalies center. METHODS: We conducted a retrospective study with 19 patients who were diagnosed with KTS and treated in our vascular anomalies clinic between 2003 and 2014, and examined their demographic characteristics, their clinical features, and the treatments administered. RESULTS: The sex distribution was balanced, with 9 (47%) males and 10 (53%) females. The mean follow-up period was 4.1 years (range, 7 months-9 years). Most of the patients received conservative treatments such as medication or physiotherapy. Compression therapies such as wearing of elastic garments/bandages were also administered, and surgical interventions were considered only when the patients became excessively symptomatic. Other treatments included laser therapy and sclerotherapy, and all the treatments were adjusted according to each case, tailored to the conditions of the individual patients. CONCLUSIONS: KTS is an extremely rare, multifactorial disorder that induces widely varied symptoms. Because of this unique feature, plastic surgeons, when not careful, tend to attach a one-sided importance to typical symptoms such as limb hypertrophy or capillary malformation and thus overlook other symptoms and clinical features. KTS can be suspected in all infants who show capillary malformations or limb hypertrophy and require a multi-disciplinary approach for comprehensive management.
Capillaries ; Extremities ; Female ; Follow-Up Studies ; Humans ; Hypertrophy ; Infant ; Klippel-Trenaunay-Weber Syndrome* ; Laser Therapy ; Male ; Plastics ; Prognosis ; Retrospective Studies ; Sclerotherapy ; Sex Distribution ; Vascular Malformations

Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation syndrome involving blood and lymph vessels, which is characterized by triad of cutaneous hemangioma, venous varicosities, and overgrowth of the affected limbs. Because vascular malformation in KTS can be located anywhere except the face and brain, the clinical presentation could be extremely variable. But there are only rare case reports that KTS is associated with spinal cord lesion. We report a case of recurrent myelopathy in a patient with KTS.
Brain ; Extremities ; Hemangioma ; Humans ; Klippel-Trenaunay-Weber Syndrome* ; Spinal Cord ; Spinal Cord Diseases* ; Vascular Malformations

Klippel-Trenaunay syndrome is a rare congenital mesodermal abnormality characterized by varicose veins, cutaneous hemangiomas, soft tissue and bony hypertrophy of limb. Potential complications such as deep venous thrombosis and pulmonary thromboembolism have not been reported in Korea to date. We demonstrate the case of a 48-year-old woman with Klippel-Trenaunay syndrome with extensive varicose veins on right lower limb, hypertrophy of left big toe and basilar artery tip aneurysm, complicated with acute submassive pulmonary thromboembolism treated successfully with intravenous thrombolytic therapy.
Aneurysm ; Basilar Artery ; Extremities ; Female ; Heart Failure ; Hemangioma ; Humans ; Hypertrophy ; Intracranial Aneurysm ; Klippel-Trenaunay-Weber Syndrome* ; Korea ; Lower Extremity ; Mesoderm ; Middle Aged ; Pulmonary Embolism* ; Thrombolytic Therapy* ; Toes ; Varicose Veins ; Venous Thromboembolism ; Venous Thrombosis

Intraosseous arteriovenous malformation (AVM) in the craniofacial region is rare. When it occurs, it is predominantly located in the mandible and maxilla. We encountered a 43-year-old woman with Klippel-Trenaunay syndrome affecting the right lower extremity who presented with a left orbital chemosis and proptosis mimicking the cavernous sinus dural arteriovenous fistula. Computed tomography angiography revealed an intraosseous AVM of the sphenoid bone. The patient's symptoms were completely relieved after embolization with Onyx. We report an extremely rare case of intraosseous AVM involving the sphenoid bone, associated with Klippel-Trenaunay syndrome.
Adult ; Angiography ; Arteriovenous Malformations ; Cavernous Sinus ; Caves ; Central Nervous System Vascular Malformations ; Exophthalmos ; Female ; Hemangioma ; Humans ; Klippel-Trenaunay-Weber Syndrome ; Lower Extremity ; Mandible ; Maxilla ; Orbit ; Sphenoid Bone

No abstract available.
Humans ; Klippel-Trenaunay-Weber Syndrome

Leprosy is disease of skin and peripheral nerve especially. Sequale and disability of musculoskeletal system, especially peripheral extremities (hands and foots) can be developed due to severe and irreversible peripheral nerve damage in leprosy. In leprosy, Skin ulcers can relapse very often and progress to deformity and amputation of hands or foot. We need methods to treat skin ulcer effectively. We have used various therapies such as antibiotics in infectious state, disinfectant, variable wet dressing materials(transparent film, foams, gels&hydrogels, hydrocolloids, calcium alignate), silver dressing, Vacuum Assisted Closure unit, debridement, curettage, surgery to treat skin ulcer in leprosy patients. Sometimes we can treat skin ulcer successfully but, we often encounter ulcer resistant to treat. We need to find and develop methods to treat ulcer successfully. Several researches have reported articles to treat wound successfully using light emitting diode(LED). We tried to treat ulcer in old leprosy patients using LED. We divided ulcers patients into case group(conventional dressing therapy + LED therapy) and control group (only conventional dressing therapy) randomly in out patient department and in ward. This research was carried out from February 2012 to September 2012. Case group and control group have composed of 30 patients respectively. Average age of patients was 74 years old in case group and 69 years old in control group. We have used LED device composed of 700 pieces of diodes emitting 635nm and 500 pieces of diodes emitting 830nm, totally 1200 pieces of diodes. We have observed the size of wounds twice per week in control group and case group. Before treatment average size of wounds was 8509.76mm3 in case group and 8625.33mm3 in control group. P-vale was 0.49. There was no significant difference in case and control group. After treatment average size of wounds was 787.83mm3 in case group and 8074.63mm3 in control group. P-vale was 0.02. There was significant difference in case and control group. After treatment average reduction of size per time was 338.02mm3/day in case group and 26.55mm3/day in control group. P-vale was 0.002. There was significant difference in case and control group. Therefore we have concluded that LED device was effective in wound treatment. Some articles have reported that LED Device have helped to treat wounds in DM ulcer, third degree burn, oral ulcer, skin ulcer in Klippel-Trenaunay syndrome patient, some retinopathy etc. We have concluded that LED of infrared or long visible wavelength light can be used effectively in treatment of wound along with conventional treatment concurrently.
Amputation ; Anti-Bacterial Agents ; Bandages ; Burns ; Calcium ; Colloids ; Congenital Abnormalities ; Curettage ; Debridement ; Enzyme Multiplied Immunoassay Technique ; Extremities ; Foot ; Foot Ulcer ; Hand ; Humans ; Klippel-Trenaunay-Weber Syndrome ; Leprosy ; Light ; Musculoskeletal System ; Negative-Pressure Wound Therapy ; Oral Ulcer ; Peripheral Nerves ; Recurrence ; Silver ; Skin ; Skin Ulcer ; Ulcer