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    Klippel-Trenaunay and Sturge-Weber overlapping syndrome in a Saudi boy.
    Sudan J Paediatr 2016 ;16(2):86-92
    Division of Pediatric Neurology, Department of Pediatrics, College of Medicine and King Saud University Medical City , King Saud University, Riyadh , Saudi Arabia.
    Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder. It is typically characterized by unilateral, posterior leptomeningeal angiomas that calcify, glaucoma, and facial portwine tains. Klippel-Trenaunay syndrome (KTS) is a rare congenital syndrome characterized by ipsilateral cutaneous capillary malformations, venous varicosities, and bony or soft tissue overgrowth of the affected limbs. Read More

    Quality of life in adults with facial port-wine stains.
    J Am Acad Dermatol 2017 Apr 9;76(4):695-702. Epub 2016 Dec 9.
    University of California Irvine, Department of Dermatology, Irvine, California.
    Background: Facial port-wine stains (PWS) are considered by some an aesthetic skin problem, yet impact on quality of life (QoL) has not been objectively documented.

    Objective: We sought to (1) characterize the effect of PWS on QoL in adults, (2) to identify the clinical and demographic factors that affect QoL, and (3) to compare our results with QoL studies in other skin conditions.

    Methods: In total, 244 adults with facial PWS completed an online QoL survey, which included the Skindex-29 instrument. Read More

    The pathobiology of vascular malformations: insights from human and model organism genetics.
    J Pathol 2017 Jan 4;241(2):281-293. Epub 2016 Dec 4.
    Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC 27710, USA.
    Vascular malformations may arise in any of the vascular beds present in the human body. These lesions vary in location, type, and clinical severity of the phenotype. In recent years, the genetic basis of several vascular malformations has been elucidated. Read More

    Growing skull hemangioma: first and unique description in a patient with Klippel-Trénaunay-Weber syndrome.
    Acta Neurochir (Wien) 2017 Feb 7;159(2):397-400. Epub 2016 Nov 7.
    Department of Neurosurgery, Maastricht University Medical Centre, PO Box 5800, 6202, AZ, Maastricht, The Netherlands.
    We present the first and unique case of a rapid-growing skull hemangioma in a patient with Klippel-Trénaunay-Weber syndrome. This case report provides evidence that not all rapid-growing, osteolytic skull lesions need to have a malignant character but certainly need a histopathological verification. This material offers insight into the list of rare pathological diagnoses in an infrequent syndrome. Read More

    Diffuse Cavernous Hemangioma of the Colon.
    Acta Gastroenterol Belg 2016 Jul-Sep;79(3):393-394
    A 70-year-old man was admitted to our clinic with a history of rectal bleeding and constipation, his colonoscopy revealed varicosities and bluish nodular lesions of the rectum (Figure 1). Abdominal CT showed multiple nodular lesions beginning from the distal descending colon and extending to the rectum, calcifications suggesting phleboliths were also seen in these lesions. A contrast enhanced pelvic MRI demonstrated multiple tubular lesions showing hyperintensity on T2-weighted images and hypointensity on T1-weighted images, consistent with the affected areas on the CT scan (Figure 2). Read More

    Abdominal vascular syndromes: characteristic imaging findings.
    Radiol Bras 2016 Jul-Aug;49(4):257-263
    Tenured Associate Professor in the Department of Diagnostic Imaging of the Escola Paulista de Medicina da Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brazil.
    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital-including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)-or compressive-including "nutcracker" syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. Read More

    Diffuse Elevated Abdominal Activity on 99mTc-Labeled Red Blood Cell Imaging in a Pediatric Patient With Klippel Trenaunay Syndrome.
    Clin Nucl Med 2016 Nov;41(11):899-901
    From the Department of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.
    Klippel Trenaunay syndrome commonly manifests as lower limb hypertrophy where vascular malformation occurs. However, up to 20% of patients with Klippel Trenaunay syndrome can have gastrointestinal involvement. An 18-year-old man with known Klippel Trenaunay syndrome in the left lower extremity underwent Tc-labeled red blood cell imaging to determine the site of gastrointestinal bleeding. Read More

    Overgrowth Syndromes.
    J Pediatr Genet 2015 Sep 25;4(3):136-43. Epub 2015 Sep 25.
    Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.
    Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as the current understanding of their molecular bases, intellectual outcomes, and cancer predispositions. We review syndromes such as Sotos, Malan, Marshall-Smith, Weaver, Simpson-Golabi-Behmel, Perlman, Bannayan-Riley-Ruvalcaba, PI3K-related, Proteus, Beckwith-Wiedemann, fibrous dysplasia, Klippel-Trenaunay-Weber, and Maffucci. Read More

    Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review.
    Phlebology 2016 Aug 9. Epub 2016 Aug 9.
    Clinic for Cardiovascular Surgery, University Hospital Zurich, Zurich, Switzerland.
    Objectives: Parkes Weber syndrome is a congenital vascular malformation which consists of capillary malformation, venous malformation, lymphatic malformation, and arteriovenous malformation. Although Parkes Weber syndrome is a clinically distinctive entity with serious complications, it is still frequently misdiagnosed as Klippel-Trenaunay syndrome that consists of the triad capillary malformation, venous malformation, and lymphatic malformation.

    Methods: We performed a systematic review investigating clinical, diagnostic, and treatment modalities of Parkes Weber syndrome (PubMed/MEDLINE, Embase, and Cochrane databases). Read More

    Klippel-Trénaunay Syndrome: Need for Careful Clinical Classification.
    J Ultrasound Med 2016 Sep 4;35(9):2057-65. Epub 2016 Aug 4.
    School of Health and Rehabilitation Sciences, The Ohio State University, College of Medicine, Columbus, Ohio USA.
    Klippel-Trénaunay syndrome (KTS) is a rare congenital malformation characterized by a triad of clinical presentations: (1) capillary malformations manifesting as a "port wine stain"; (2) limb hypertrophy; and (3) venous varicosities. It is distinguished from Parkes-Weber syndrome by the absence of substantial arteriovenous shunting. Due to the clinical implications of an arteriovenous fistula, differentiation between the two syndromes is important, as the prognosis and treatment greatly differ. Read More

    Neurocutaneous syndromes.
    Handb Clin Neurol 2016 ;135:565-89
    Division of Neuroradiology, Russell H. Morgan Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:
    Neurocutaneous syndromes (or phakomatoses) are a diverse group of congenital disorders that encompass abnormalities of neuroectodermal and, sometimes, mesodermal development, hence commonly involving the skin, eye, and central nervous system. These are often inherited conditions and typically present in early childhood or adolescence. Some of the abnormalities and clinical symptoms may, however, be progressive, and there is an increased risk of neoplastic formation in many of the syndromes. Read More

    Klippel Trenaunay Syndrome: A Case Report in an Adolescent Nigerian Boy.
    Open Access Maced J Med Sci 2015 Jun 28;3(2):322-5. Epub 2015 Mar 28.
    University of Calabar Teaching Hospital, Radiology, University of Calabar, PMB 1115, Nigeria.
    Aim: This is to report a case of Klippel Trenauay Weber syndrome in a fifteen year old Nigerian boy. This is a rare syndrome and it is the first case to be reported in UCTH Calabar.

    Case Presentation: Product of a full term uneventful pregnancy, delivered to non-consanguineous apparently healthy parents. Read More

    Rare Association of Klippel-Trenaunay Syndrome with Large Pulmonary Embolism and Asymmetrical Emphysematous Bullae.
    J Coll Physicians Surg Pak 2016 May;26(5):432-4
    Department of Cardiology, Care Hospital, Surat, Gujarat, India.
    Klippel-Trenaunay syndrome is a rarely encountered congenital disease characterized by a triad of enlarged arteries and veins, limb hypertrophy and capillary malformations. We are presenting an interesting case of a 23-year male who had been previously diagnosed to have Klippel-Trenaunay syndrome. The patient presented with large pulmonary embolism after having undergone laser surgery for varicose veins. Read More

    A case of recurrent massive pulmonary embolism in Klippel-Trenaunay-Weber syndrome treated with thrombolytics.
    Respir Med Case Rep 2016 25;17:68-70. Epub 2016 Jan 25.
    Department of Pulmonary Medicine, Jamaica Hospital Medical Center, Jamaica, NY, United States.
    Klippel - Trenaunay - Weber syndrome (KTWS) is a congenital condition characterized by a triad of capillary malformations of the skin, soft tissue and bone hypertrophy resulting in limb enlargement, and abnormalities of arteriovenous and lymphatic systems of the affected limb. In this case, we present a patient with KTWS receiving chronic anticoagulation that had a massive pulmonary embolism and was successfully treated with thrombolytic therapy. The purpose of this case is to educate readers about this uncommon condition and to increase awareness, recognition and timely treatment of its most common complications, namely thrombosis and pulmonary embolism. Read More

    Combined surgical and endovascular treatment of complex high-flow conus medullaris arteriovenous fistula associated with Parkes Weber syndrome: case report.
    J Neurosurg Spine 2016 Aug 25;25(2):234-8. Epub 2016 Mar 25.
    Parkes Weber syndrome (PWS) is a congenital overgrowth disorder characterized by unilateral limb and axial hypertrophy, capillary malformations of the skin, and high-flow arteriovenous fistulas (AVFs). Spinal AVFs in the setting of PWS are challenging vascular lesions that often contain multiple arteriovenous (AV) shunts. The present case report highlights an adolescent girl with PWS who presented with a ruptured complex high-flow conus medullaris AVF. Read More

    Combined Lymphedema and Capillary Malformation of the Lower Extremity.
    Plast Reconstr Surg Glob Open 2016 Feb 10;4(2):e618. Epub 2016 Feb 10.
    Department of Plastic and Oral Surgery, and Department of Radiology, Vascular Anomalies Center, Lymphedema Program Boston Children's Hospital, Harvard Medical School, Boston, Mass.
    Unlabelled: Primary lymphedema and capillary malformation are independent vascular malformations that can cause overgrowth of the lower extremity. We report a series of patients who had both types of malformations affecting the same leg. The condition is unique but may be confused with other types of vascular malformation overgrowth conditions (eg, Klippel-Trenaunay and Parkes Weber). Read More

    Mosaic Neurocutaneous Disorders and Their Causes.
    Semin Pediatr Neurol 2015 Dec 12;22(4):207-33. Epub 2015 Nov 12.
    Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy; Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
    Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a mosaic patterning (usually arranged in archetypical patterns). Alternating segments of affected and unaffected skin or segmentally arranged patterns of abnormal skin often mirror similar phenomena occurring in extra-cutaneous organs/tissues [eg, eye, bone, heart/vessels, lung, kidney and gut]. Read More

    Klippel-Trenaunay-Weber Syndrome with Kasabach-Merritt Coagulopathy and Hydronephrosis.
    Indian Pediatr 2015 Nov;52(11):987-8
    Department of Neonatology, Fortis Hospital, Noida, Uttar Pradesh, India. Correspondence to: Dr Supriya Bisht, Department of Neonatology, Fortis Hospital, B-22, Sector 62, Noida, Uttar Pradesh, India.
    Background: Klippel-Trenaunay-Weber Syndrome is a rare syndrome, consisting of vascular malformation of blood and lymph vessels.

    Case Characteristics: A newborn female with respiratory distress from birth, and having vascular malformation involving left thigh.

    Observation: The neonate also had hydronephrosis and developed complication of Kasabach Merritt syndrome. Read More

    Prenatal diagnosis of Klippel-Trenaunay-Weber syndrome with Kasabach-Merritt syndrome in utero.
    J Med Ultrason (2001) 2015 Jan 3;42(1):109-12. Epub 2014 Jul 3.
    Department of Obstetrics and Gynecology, Kyorin University School of Medicine, 6-20-2 Shinkawa, Mitaka, Tokyo, 181-8611, Japan.
    Klippel-Trenaunay-Weber syndrome (KTWS), a congenital disease characterized by cutaneous hemangiomas, soft tissue and bone hypertrophy, and occasionally arteriovenous malformations, is extremely rare and its natural history in utero is unknown. We present a prenatally diagnosed case of KTWS complicated with Kasabach-Merritt syndrome in utero and fetal hydrops from acute anemia. The fetus was diagnosed with KTWS at 24 weeks of gestation based on the ultrasound findings of hemangiomas and unilateral hypertrophy of the lower extremity. Read More

    Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?
    Biomed Res Int 2015 16;2015:786519. Epub 2015 Sep 16.
    Ophthalmology Unit, St. Andrea Hospital, NESMOS Department, University of Rome "Sapienza", Via di Grottarossa 1035-1039, 00189 Rome, Italy.
    The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common. Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome, PIK3CA mutation in malformative/overgrowth syndromes such as the Klippel-Trenaunay syndrome, and the twin-spotting phenomenon in phakomatosis pigmentovascularis. Read More

    Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations.
    Dermatol Online J 2015 Sep 17;21(9). Epub 2015 Sep 17.
    Government Medical College, Amritsar.
    Phacomatosis pigmentovascularis (PPV) is a rare genodermatosis characterized by the co-existence of an extensive vascular and a pigmentary nevus with or without extracutaneous manifestations. We report two such rare cases. The first is a 3-year-old boy exhibiting a rare association of cutis marmorata telangiectatica congenita with aberrant dermal melanocytosis along with hypospadias and melanosis oculi (traditionally classified as PPV type Vb or phacomatosis cesiomarmorata - Happle's classification). Read More

    Clinical Experience of the Klippel-Trenaunay Syndrome.
    Arch Plast Surg 2015 Sep 15;42(5):552-8. Epub 2015 Sep 15.
    Department of Plastic and Reconstructive Surgery, Kyungpook National University School of Medicine, Daegu, Korea.
    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. Read More

    Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).
    Exp Dermatol 2016 Jan 13;25(1):17-9. Epub 2015 Oct 13.
    Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.
    Klippel-Trenaunay syndrome (KTS), originally described as a triad of cutaneous capillary malformation, bone and soft-tissue hypertrophy, as well as venous and lymphatic malformations, has been considered by dermatologists as a distinct diagnostic entity. However, cases with KTS have also been reported to have neurological disorders, developmental delay and digital abnormalities, indicating multisystem involvement. Recently, a number of overgrowth syndromes, with overlapping phenotypic features with KTS, have been identified; these include MCAP and CLOVES syndromes as well as fibroadipose hyperplasia. Read More

    Island nail flap in the treatment of foot macrodactyly of the first ray in children: report of two cases.
    J Child Orthop 2015 Aug 4;9(4):281-5. Epub 2015 Aug 4.
    Department of Trauma and Orthopedic Surgery, Pediatric Orthopedic Unit, Hospital Virgen del Rocío, Avenida Manuel Siurot s/n, 41013, Seville, Spain,
    Purpose: We evaluated the result of a combined single-stage surgery in the treatment of first ray macrodactyly in children.

    Introduction: Macrodactyly is a rare congenital abnormality that involves thickening of both the soft tissue and bone of the affected digits. It is more frequent in fingers than toes, where there is less neural involvement. Read More

    Sciatic nerve hypertrophy with Klippel-Trenaunay syndrome: a case report.
    Turk Neurosurg 2015 ;25(3):500-2
    Giresun University, School of Medicine, Department of Physical Medicine and Rehabilitation, Giresun, Turkey.
    A 73-year-old female patient who had severe neuropathic pain due to sciatic nerve hypertrophy with the Klippel-Trenaunay Syndrome has been presented. Localized hypertrophic neuropathy is in one region and characterized by concentric proliferation of Schwann cells around the axon. It is very rare in the absence of generalized hypertrophic neuropathy. Read More

    An unusual presentation of pediatric osteoblastoma in a patient with Klippel-Trenaunay-Weber syndrome: case report.
    J Neurosurg Pediatr 2015 Jun 13;15(6):638-40. Epub 2015 Mar 13.
    4Surgery, Naval Medical Center San Diego, California.
    Osteoblastoma is an uncommon primary bone tumor that usually presents as a painful lesion in a long bone or in the spine. Osteoblastoma has been reported only twice in the literature in conjunction with systemic fibromatosis. The authors report the case of an 8-year-old girl with suspected Klippel-Trenaunay-Weber syndrome, a rare syndrome of systemic fibromatosis, who presented with a painless thoracic rib lesion that was found to be an osteoblastoma. Read More

    A case of newly diagnosed klippel trenaunay weber syndrome presenting with nephrotic syndrome.
    Case Rep Nephrol 2015 27;2015:704379. Epub 2015 Apr 27.
    Department of Nephrology, Haseki Training and Research Hospital, 34087 Istanbul, Turkey.
    Klippel Trenaunay Weber syndrome (KTWS) is a rare disease characterized by hemihypertrophy, variceal enlargement of the veins, and arteriovenous (AV) malformations. Renal involvement in KTWS is not known except in rare case reports. Herein, we present a case of KTWS with nephrotic syndrome. Read More

    Parkes weber syndrome involving right lower limb: a case report.
    Indian J Surg 2015 Apr 19;77(Suppl 1):130-4. Epub 2014 Nov 19.
    Dr. D.Y. Patil Medical College, Hospital and Research Centre, Dr. DY Patil Vidyapeeth, Pimpri, Pune, Maharashtra India.
    Vascular malformations (VMs) are developmental abnormalities of the vascular system. Malformations may involve any segment of the vascular tree: arteries, capillaries, veins or lymphatics. High-flow arteriovenous malformations (AVMs) are associated with shunting of large amounts of arterial blood into the venous system; these lesions can have dynamic and dramatic hemodynamic manifestations, such as massive arteriolisation with gross venous engorgement, organomegaly of concerned anatomical region and high-output cardiac failure. Read More

    Malignant peripheral nerve sheath tumor (MPNST) arising in diffuse-type neurofibroma: clinicopathologic characterization in a series of 9 cases.
    Am J Surg Pathol 2015 Sep;39(9):1234-41
    Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
    Diffuse-type neurofibroma, an uncommon variant of neurofibroma, is associated with neurofibromatosis type 1 in ∼60% of cases. Typically presenting in young adults as ill-defined plaque-like dermal/subcutaneous thickening, most cases are located on the trunk or the head and neck region. Malignant transformation is extremely rare. Read More

    Glioblastoma multiforme in Klippel-Trenaunay-Weber syndrome: a case report.
    J Med Case Rep 2015 Apr 17;9:83. Epub 2015 Apr 17.
    Department of Neurological Surgery, School of Medicine and Public Health, University of Wisconsin, 750 Highland Avenue, Madison, WI, USA.
    Introduction: Klippel-Trenaunay-Weber syndrome (KTWS) is a rare syndrome in which patients usually present with cutaneous hemangiomas, venous varicosities, and bone and soft tissue hypertrophy of the affected limb. Intracranial lesions in patients with KTWS are extremely rare, and are generally reported as single cases in the literature. We describe a rare case, where a patient with KTWS was found with a hemorrhagic grade IV astrocytoma. Read More

    [Vascular anomalies].
    Rev Med Suisse 2015 Feb;11(460):357-61
    Vascular anomalies are rare conditions that could be observed at all ages. They are classified, according to their histology, in vascular tumors or vascular malformations. The general practitioner plays a significant role in diagnosis and patient management, diagnosis being suspected on clinical history. Read More

    Surgical treatment of varicose veins and venous malformations in Klippel-Trenaunay syndrome.
    Phlebology 2016 Apr 17;31(3):209-15. Epub 2015 Mar 17.
    Vascular Malformation Clinic, Gonda Vascular Center, Mayo Clinic, Rochester, USA.
    Background: Klippel-Trenaunay syndrome (KTS) is a mixed mesenchymal malformation characterised by varicose veins, venous and capillary malformations, and hypertrophy of soft tissue and bone. The purpose of this study was to evaluate the surgical outcomes in KTS patients to provide standards for comparison with endovenous therapy.

    Methods: The clinical data of consecutive patient with KTS who underwent open venous surgical treatment between January 1987 and December 2008 were reviewed. Read More

    Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.
    J Pediatr 2015 Apr 11;166(4):1048-54.e1-5. Epub 2015 Feb 11.
    Vascular Anomalies Center, Boston Children's Hospital, Boston, MA. Electronic address:
    Objectives: To test the hypothesis that somatic phosphatidylinositol-4,5-bisphospate 3-kinase, catalytic subunit alpha (PIK3CA) mutations would be found in patients with more common disorders including isolated lymphatic malformation (LM) and Klippel-Trenaunay syndrome (KTS).

    Study Design: We used next generation sequencing, droplet digital polymerase chain reaction, and single molecule molecular inversion probes to search for somatic PIK3CA mutations in affected tissue from patients seen at Boston Children's Hospital who had an isolated LM (n = 17), KTS (n = 21), fibro-adipose vascular anomaly (n = 8), or congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies syndrome (n = 33), the disorder for which we first identified somatic PIK3CA mutations. We also screened 5 of the more common PIK3CA mutations in a second cohort of patients with LM (n = 31) from Seattle Children's Hospital. Read More

    Phakomatosis pigmentovascularis presenting with sturge-weber syndrome and klippel-trenaunay syndrome.
    Indian J Dermatol 2015 Jan-Feb;60(1):77-9
    Department of Dermatology Venereology and Leprosy, Institute of Post-Graduate Medical Education and Research and Seth Sukhlal Karnani Memorial Hospital, Kolkata, West Bengal, India.
    Phakomatosis pigmentovascularis (PPV) is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype 'a' present only with cutaneous form and subtype 'b' also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination. Read More

    Cystoscopic findings: a video tutorial.
    Int Urogynecol J 2015 Jun 27;26(6):921-3. Epub 2015 Jan 27.
    Department of Urology, University of Michigan, 1500 E. Medical Center Drive 3875 Taubman Center, SPC 5330, Ann Arbor, MI, 48109-5330, USA,
    Introduction And Hypothesis: Cystoscopy is frequently performed by gynecologists to ensure ureteral patency and to prevent bladder injury when performing concomitant gynecological procedures. Generally, there are no additional findings on cystoscopy; however, when abnormalities arise, they may require either observation or intervention. Our aim was to create a visual library of benign, malignant, and foreign-body pathological conditions incidentally encountered on cystoscopy. Read More

    A port-wine stain in association with underlying syndrome.
    Postgrad Med 2014 Nov;126(7):157-9
    Klippel-Trenaunay syndrome (KTS) is a capillary-venous vascular malformation condition characterized by capillary malformation, soft tissue and bone hypertrophy, and varicosities. Here we present the case of a 29-year-old man who presented with port wine stain and recurrent ulcerations on his right leg. This leg was also larger than the left one. Read More

    Imaging evaluation of fetal vascular anomalies.
    Pediatr Radiol 2015 Jul 10;45(8):1218-29. Epub 2014 Dec 10.
    Department of Radiology, MLC 5031 Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave., Cincinnati, OH, 45229-3039, USA,
    Vascular anomalies can be detected in utero and should be considered in the setting of solid, mixed or cystic lesions in the fetus. Evaluation of the gray-scale and color Doppler US and MRI characteristics can guide diagnosis. We present a case-based pictorial essay to illustrate the prenatal imaging characteristics in 11 pregnancies with vascular malformations (5 lymphatic malformations, 2 Klippel-Trenaunay syndrome, 1 venous-lymphatic malformation, 1 Parkes-Weber syndrome) and vascular tumors (1 congenital hemangioma, 1 kaposiform hemangioendothelioma). Read More

    Sphincter-saving resection of rectal hemangioma based on Doppler transrectal ultrasonography findings: report of a case.
    Int Surg 2014 Nov-Dec;99(6):705-9
    Department of Gastrointestinal and Pediatric Surgery, Division of Reparative Medicine, Institute of Life Sciences, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
    A 52-year-old woman was diagnosed with rectal hemangioma that had resulted in chronic bleeding. Klippel-Trenaunay syndrome was diagnosed by clinical examination. She was referred 30 years later because of progressive anemia. Read More

    [Klippel-Trenaunay syndrome associated with hemimegalencephaly].
    Arch Pediatr 2015 Jan 4;22(1):71-4. Epub 2014 Nov 4.
    Service de radiologie, hôpital d'enfants, maternité, avenue Ibn-Rochd, BP 6542, Rabat, Maroc.
    Klippel-Trenaunay syndrome (KTS) is a rare, complex congenital vascular malformation. This neurocutaneous syndrome can be associated with brain malformations. We report a case involving Klippel-Trenaunay syndrome and hemimegalencephaly in a 3-year-old child revealed by epileptic encephalopathy. Read More

    Klippel-Trenaunay syndrome presenting with acanthocytosis and splenic and retroperitoneal lymphangioma: a case report.
    J Med Case Rep 2014 Nov 27;8:390. Epub 2014 Nov 27.
    Department of Clinical Medicine, Faculty of Medicine, University of Colombo, 25, Kynsey Road, Colombo 08, Sri Lanka.
    Introduction: Klippel-Trenaunay syndrome is a rare congenital mesodermal abnormality characterized by bone and soft tissue hypertrophy, extensive hemangioma and venous abnormalities. We report the case of a patient with two additional rare clinical manifestations in the background of Klippel-Trenaunay syndrome, namely, acanthocytosis and splenic and retroperitoneal lymphangioma.

    Case Presentation: A 24-year-old Sri Lankan man from North Central Province in Sri Lanka presented to our general medical unit with symptomatic anaemia. Read More

    Overgrowth syndromes with complex vascular anomalies.
    Semin Pediatr Surg 2014 Aug 19;23(4):208-15. Epub 2014 Jun 19.
    Vascular Anomalies Center, Boston Children׳s Hospital and Harvard Medical School, Boston, Massachusetts; Division of Vascular and Interventional Radiology, Boston Children׳s Hospital and Harvard Medical School, 300 Longwood Ave, Boston, Massachusetts 02115. Electronic address:
    Management of overgrowth syndromes with complex vascular anomalies is challenging. Careful analysis of the various clinical features by an interdisciplinary team of physicians experienced in this field is paramount to proper diagnostic and therapeutic approaches. In this article, we focus on the spectrum of the clinical presentation and the management strategies of the most common overgrowth syndromes with complex vascular anomalies. Read More

    Klippel-Trenaunay syndrome and gestational trophoblastic neoplasm.
    Indian Pediatr 2014 Sep;51(9):745-6
    Department of Pediatrics, Government Medical College, Thiruvananthapuram, Kerala. Correspondence to: Dr Priya Sreenivasan, Assistant Professor of Pediatrics, Government Medical College, Thiruvananthapuram, Kerala.
    Background: Klippel-Trenaunay syndrome is a non-heritable venous malformation with bone and soft tissue hypertrophy and cutaneous nevi.

    Case Characteristics: Neonate with Klippel Trenaunay syndrome born to a mother with past history of Gestational trophoblastic neoplasm.

    Observation: Antenatally, a fetal vascular malformation was identified ultrasonologically at 29 weeks gestation. Read More

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