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    Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation.
    Eur J Med Genet 2017 Oct 9. Epub 2017 Oct 9.
    Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, MI 48103, USA. Electronic address:
    Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant vascular disorder that is associated with inherited inactivating mutations of the RASA1 gene in the majority of cases. Characteristically, patients exhibit one or more focal cutaneous CM that may occur alone or together with AVM, arteriovenous fistulas or lymphatic vessel abnormalities. The focal nature and varying presentation of lesions has led to the hypothesis that somatic "second hit" inactivating mutations of RASA1 are necessary for disease development. Read More

    Echocardiographic Evaluation of Hemodynamics in Neonates and Children.
    Front Pediatr 2017 15;5:201. Epub 2017 Sep 15.
    Department of Neonatology and Pediatric Cardiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
    Hemodynamic instability and inadequate cardiac performance are common in critically ill children. The clinical assessment of hemodynamic status is reliant upon physical examination supported by the clinical signs such as heart rate, blood pressure, capillary refill time, and measurement of the urine output and serum lactate. Unfortunately, all of these parameters are surrogate markers of cardiovascular well-being and they provide limited direct information regarding the adequacy of blood flow and tissue perfusion. Read More

    Angioarchitecture of Hereditary Arteriovenous Malformations.
    Semin Intervent Radiol 2017 Sep 11;34(3):250-257. Epub 2017 Sep 11.
    Department of Radiology, Medical College of Wisconsin, Children's Hospital of Wisconsin, Milwaukee, Wisconsin.
    This article describes three hereditary conditions known to be associated with arteriovenous malformation (AVM), along with their clinical and imaging features and angiographic angioarchitecture. Hereditary hemorrhagic telangiectasia, capillary malformation-AVM (CM-AVM), and PTEN tumor hamartoma syndrome are conditions with autosomal dominant inheritance, caused by mutations in different molecular pathways, which frequently present with symptomatic AVMs. Imaging biomarkers, including sites of predilection, angioarchitecture, and tissue overgrowth patterns, are helpful in identifying these patients and selecting appropriate treatment. Read More

    Hypoglycaemia Represents a Clinically Significant Manifestation of PIK3CA- and CCND2-Associated Segmental Overgrowth.
    Clin Genet 2017 Sep 23. Epub 2017 Sep 23.
    Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals, NHS Foundation Trust Manchester Academic Health Sciences Centre.
    The PI3K-AKT signalling cascade has a highly conserved role in a variety of processes including cell growth and glucose homoeostasis. Variants affecting this pathway can lead to one of several segmental overgrowth disorders. These conditions are genetically heterogeneous and require tailored, multidisciplinary involvement throughout life. Read More

    A case of pulmonary arteriovenous malformation: role of interventional radiology in diagnosis and treatment.
    Ann Transl Med 2017 Sep;5(17):345
    Department of Radiology, Yale New Haven Heath at Bridgeport Hospital, Bridgeport, CT, USA.
    Pulmonary arterio-venous malformations (PAVMs) are abnormal pulmonary arteries and pulmonary veins communicating directly without interposition of a capillary bed and about 80-90% of patients with PAVMs eventually may present with hereditary hemorrhagic telangiectasia (HHT), remaining ones are sporadic cases. On the other hand, about 15-35% of HHT patients may present with PAVMs. The PAVMs have a tendency to grow and increase in size over time and various factors like puberty, pregnancy and pulmonary arterial hypertension (PAH) affect growth. Read More

    Ileal angiodysplasia presentation as a bowel obstruction: A case report.
    Int J Surg Case Rep 2017 Jul 24;39:301-304. Epub 2017 Jul 24.
    Department of Radiology, University Hospital of Charles Nicolle, Bab Saadoun, Tunis, Tunisia.
    Introduction: Angiodysplasia is a common vascular abnormality of the gastrointestinal tract, found in the elderly and most frequently revealed by gastrointestinal bleeding. We report an original case of ileal angiodysplasia in an 83-year-old woman presenting as a bowel obstruction.

    Case Presentation: An 83-year-old woman with a medical history of chronic untreated anemia, presented with cardinal symptoms of bowel obstruction. Read More

    Giant Chest Wall Arteriovenous Malformation: A Case Report and Literature Review.
    Ann Vasc Surg 2017 Sep 7. Epub 2017 Sep 7.
    Department of Surgery, University of Oklahoma Health Sciences Center, Oklahoma City, OK. Electronic address:
    Background: We present an interesting case of a 55-year-old male with a large left chest mass after significant cutaneous bleeding. Computed tomography angiogram of the chest revealed arteriovenous malformation with blood supply from sub-branches of the left subclavian artery, left internal mammary artery, and left external carotid artery. Measuring 5. Read More

    Percutaneous sclerotherapy using bleomycin for the treatment of vascular malformations.
    Int J Dermatol 2017 Nov 4;56(11):1186-1191. Epub 2017 Sep 4.
    Department of Dermatology, School of Medicine, Pusan National University, Busan, Korea.
    Background: Some vascular malformations are difficult to manage with surgical treatment. Thus, percutaneous sclerotherapy has been utilized with several advantages over surgical treatment. Bleomycin is one of several sclerosing agents used for the treatment of vascular malformations. Read More

    [Surgical treatment of patients with arteriovenous head and neck angiodisplasia].
    Stomatologiia (Mosk) 2017 ;96(4):28-31
    Head Office of Medical and Social Expertize of the Voronezh Region, Voronezh, Russia.
    The aim of the study was to assess the results of surgical treatment in 74 patients with extensive arteriovenous angiodisplasia in the head and neck area. All patients underwent complex examination including ultrasound, CT and MRI with contrast and selective carotid angiography. The lesions excision was performed after endovascular embolization and soft tissue defects were restored by various methods selected according to prevalent vascular lesion type (arterial, arteriovenous, venous, capillary) and blood flow values (high flow, low flow, mixed). Read More

    The 'radical combined approach' in cerebral arteriovenous malformation treatment: Technical note.
    Neurol Neurochir Pol 2017 Aug 12. Epub 2017 Aug 12.
    Usak State Hospital, Department of Neurosurgery, Usak, Turkey. Electronic address:
    AVMs are vessel anomalies where a connection between arterial and venous systems is present and the capillary bed is absent between the two. AVMs tend to present with seizures, headaches, focal neurological deficits and hemorrhage. Hemorrhage is the most common form of presentation. Read More

    A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.
    BMC Med Genet 2017 Aug 23;18(1):91. Epub 2017 Aug 23.
    Department & Institute of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China.
    Background: Perrault syndrome is a rare multisystem disorder that manifests with sensorineural hearing loss in both sexes, primary ovarian insufficiency in females and neurological features. The syndrome is heterogeneous both genetically and phenotypically.

    Case Presentation: We reported a consanguineous family (two affected sisters) with Perrault syndrome. Read More

    Wilms tumor screening in diffuse capillary malformation with overgrowth and macrocephaly-capillary malformation: A retrospective study.
    J Am Acad Dermatol 2017 Nov 16;77(5):874-878. Epub 2017 Aug 16.
    Department of Dermatology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:
    Background: CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies) syndrome is associated with regional bony and/or soft tissue overgrowth, capillary malformation, and an increased risk for Wilms tumor.

    Objective: To evaluate the frequency of Wilms tumor in patients with 2 similar conditions: diffuse capillary malformation with overgrowth (DCMO) and macrocephaly-capillary malformation (M-CM).

    Methods: Culling our Vascular Anomalies Center database, we retrospectively reviewed patients in whom DCMO and M-CM had been diagnosed and who were evaluated between 1998 and 2016 for possible development of Wilms tumor. Read More

    Perimesencephalic nonaneurysmal subarachnoid hemorrhage caused by transverse sinus thrombosis: A case report and review of literature.
    Medicine (Baltimore) 2017 Aug;96(33):e7374
    aDepartment of Neurology bDepartment of Radiology, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou cFrom the Department of Neurology, the Fifth Affiliated Hospital of Wenzhou Medical University, Lishui Central Hospital, Lishui, Zhejiang Province dFrom the Department of Neurology, Zhengzhou People's Hospital, Zhengzhou, Henan Province, China.
    Rationale: Perimesencephalic nonaneurysmal subarachnoid hemorrhage (PNSAH) is characterized by a pattern of extravasated blood restricted to the perimesencephalic cisterns, normal angiographic findings, and an excellent prognosis with an uneventful course and low risks of complication. The precise etiology of bleeding in patients with PNSAH has not yet been established. The most common hypothesis is that PNSAH is venous in origin. Read More

    Venous Thromboembolism in Pediatric Vascular Anomalies.
    Front Pediatr 2017 24;5:158. Epub 2017 Jul 24.
    Vascular Anomalies Center, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, CA, United States.
    The presence of a vascular anomaly suggests that capillaries, veins, arteries, and/or lymphatic vessels have demonstrated abnormal development and growth. Often dilated and misshaped, these vessels augment normal flow of blood and lymphatic fluids that increases the overall risk to develop intralesional thrombosis. Abnormal endothelial and lymphoendothelial cells activate hemostasis and hyperfibrinolytic pathways through poorly understood mechanisms, which contribute to the development of localized intravascular coagulopathy. Read More

    Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations.
    Pediatr Radiol 2017 Aug 4;47(9):1196-1208. Epub 2017 Aug 4.
    Department of Diagnostic Imaging, The Hospital for Sick Children, 555 University Ave., Toronto, ON, M5G 1X8, Canada.
    Vascular malformations are a heterogeneous group of entities, many of which present in the pediatric age group. Sonography plays a major role in the management of children with these vascular anomalies by providing information that helps in diagnosing them, in assessing lesion extent and complications, and in monitoring response to therapy. The interpretation of sonographic findings requires correlation with clinical findings, some of which can be easily obtained at the time of scanning. Read More

    Pulmonary Hypertension in a Patient with Hereditary Hemorrhagic Telangiectasia.
    R I Med J (2013) 2017 Aug 1;100(8):29-31. Epub 2017 Aug 1.
    Division of Pulmonary and Critical Care Medicine, Massachusetts General Hospital, Boston, MA 02114.
    t Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu Disease, is an autosomal dominant genetic disorder that is characterized by the abnormal development of blood vessels. While the pathophysiology underlying the development of pulmonary hypertension (PH) in patients with HHT is not fully understood, it is believed to occur by one of two mechanisms: increases in pulmonary vascular resistance or cardiac output. In the following report, we describe an interesting case of a 26-year-old woman with HHT whose right heart catheterization initially demonstrated PH with elements of both pre- and post-capillary PH. Read More

    EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.
    Pediatr Dermatol 2017 Sep 21;34(5):e227-e230. Epub 2017 Jul 21.
    Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Capillary malformation-arteriovenous malformation (CM-AVM) syndrome, due to inactivating mutations in RASA1 in 68% of cases, is characterized by the development of cutaneous capillary malformations and arteriovenous malformations or fistulas; no known genetic etiology has been identified in patients with CM-AVM syndrome without RASA1 mutations. We present the case of a child with RASA1-negative CM-AVM syndrome with a de novo missense mutation in EPHB4, a transmembrane tyrosine kinase receptor essential for vasculogenesis. Inactivating the mutation in EPHB4 has been shown to upregulate the mitogen-activated protein kinase pathway and the mammalian target of rapamycin complex 1, possibly contributing to the development of vascular malformations. Read More

    The Usefulness of Surgical Treatment in Slow-Flow Vascular Malformation Patients.
    Arch Plast Surg 2017 Jul 15;44(4):301-307. Epub 2017 Jul 15.
    Department of Plastic and Reconstructive Surgery, Pusan National University School of Medicine, Busan, Korea.
    Background: Many difficulties exist in establishing a treatment plan for slow-flow vascular malformation (SFVM). In particular, little research has been conducted on the surgical treatment of SFVMs. Thus, we investigated what proportion of SFVM patients were candidates for surgical treatment in clinical practice and how useful surgical treatment was in those patients. Read More

    Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge-Weber Syndrome.
    J Pediatr 2017 Sep 12;188:205-209.e1. Epub 2017 Jul 12.
    Division of Pediatric Dermatology, Johns Hopkins University School of Medicine, Baltimore, MD.
    Objective: To determine whether the size of the birthmark in patients with Sturge-Weber syndrome (SWS) who have brain involvement can help predict neurologic disability.

    Study Design: Fifty-one patients with SWS with facial birthmarks and brain involvement documented on magnetic resonance imaging were included in this retrospective chart review. A neuroradiologist, blinded to all clinical information, assigned a previously validated SWS neuroimaging score. Read More

    Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
    Circulation 2017 Sep 7;136(11):1037-1048. Epub 2017 Jul 7.
    From Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Université catholique de Louvain, Brussels, Belgium (N.R.); Université catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of Rochester School of Medicine and Dentistry, Rochester, NY (M.C.); Departments of Pediatrics and Medicine, Columbia University, New York (W.C., A.B.); Department of Medical Imaging, Sainte-Justine Mother- Child University Hospital, Montreal, Canada (J.D.); Service de Dermatologie, Centre Hospitalo-Universitaire de Nice, France (J.-P.L.); Genética Molecular, Hospital Sant Joan de Déu, Barcelona, Spain (L.M.); Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France (J.M.-H.); Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (R.E.P.); Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia (D.J.A.); Department of Neuroradiology, Lariboisière Hospital, Paris, France (A.B.); Vascular Anomalies Program, Lenox Hill Hospital, New York (F.B.); Vascular Birthmark Institute of New York, Roosevelt Hospital (F.B.); Department of Pediatrics, Medical Genetics University of Iowa Carver College of Medicine, Iowa City (H.B.); Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, France (A.D.); Department of Urology, Wake Forest School of Medicine, Winston Salem, NC (D.B.); Genetics Service, Paediatric Department, University Hospital Santa Maria, Lisbon, Portugal (J.D.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (M.A.G.-E.); Departement of Dermatology, School of Medicine, University of California, San Francisco (I.P.); Department of Genetics, University Hospital, Caen, France (M.G.); Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden (M.K.); Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (A.K.H.-K., L.H.); Hopital Pellegrin Enfants, Bordeaux, France (C.L.-L.); Hôpital Sainte-Justine, Montréal, Quebec, Canada (C.M.); Department of Dermatology, Texas Children's Hospital, Houston (D.M.); Département de Pédiatrie et Génétique Médicale, CHRU Hôpital Morvan, Brest, France (P.P.); Department of Dermatology, Paul Sabatier University, Toulouse, France (C.P.); Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France (F.P.); Pediatric Dermatology Unit, Claude Bernard-Lyon, University and Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, France (A.P.); Centre Hospitalier Universitaire, Montpellier, France (I.Q.); Dermatolgie, Faculté de Médecine d'Alger, Algeria (A.S.); Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia (A.T.); Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, France (P.V.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (A.V.); Department of Paediatric Dermatology, Sydney Children's Hospital, School of Women's and Children's Health University of New South Wales, Sydney, Australia (O.W.); Department of Plastic and Reconstructive Surgery, University of Tokyo, Hongo, Japan (S.W.); Department of Pediatric Dermatology, University Children's Hospital Zurich, Switzerland (L.W.); Children's Hospital of New York (A.W.); University of Iowa Hospitals and Clinics, Iowa City (M.W.); Department of Pediatrics, Washington University, St. Louis, MO (M.W.); and Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, MA (L.M.B.).
    Background: Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary hemorrhagic telangiectasia and capillary malformation (CM)-AVM. Previously, we identified RASA1 mutations in 50% of patients with CM-AVM. Read More

    Foxc2 influences alveolar epithelial cell differentiation during lung development.
    Dev Growth Differ 2017 Aug 4;59(6):501-514. Epub 2017 Jul 4.
    First Department of Medicine, Tokyo Women's Medical University, Tokyo, Japan.
    FOXC2, a forkhead transcriptional factor, is a candidate gene for congenital heart diseases and lymphedema-distichiasis syndrome and yellow nail syndrome; however, there are no reports on Foxc2 and the development of the lung. We have identified lung abnormalities in Foxc2-knockout embryos during investigation of cardiac development. The aim of this study was to clarify the morphological characteristics during lung development using ICR-Foxc2 knockout lungs. Read More

    Update on classification and diagnosis of vascular malformations.
    Curr Opin Pediatr 2017 Aug;29(4):448-454
    CHU Sainte-Justine, University of Montreal, Montreal, Québec, Canada.
    Purpose Of Review: This review provides an update of the classification in the classification of vascular anomalies since April 2014 at the International Society for the Study of Vascular Anomalies meeting in Melbourne, Australia.

    Recent Findings: The reader will become familiar with how to diagnose the major vascular malformations, including capillary, venous, arteriovenous, and lymphatic and combinations thereof. In addition, vascular malformation syndromes, including those with overgrowth, will be clarified. Read More

    Successful Treatment of Unilateral Klippel-Trenaunay Syndrome With Pulsed-Dye Laser in a 2-Week Old Infant.
    J Lasers Med Sci 2017 28;8(2):98-100. Epub 2017 Mar 28.
    Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Introduction: Klippel-Trenaunay syndrome (KTS) is a rare congenital mesodermal abnormality characterized by varicose veins, cutaneous capillary malformation, as well as bone and soft tissue hypertrophy. Case Report: A 2-week-old female infant presented to our clinic because of vascular nevus and progressive enlargement of her right extremities and trunk since birth. The patient was treated with 595-nm pulsed-dye laser (PDL). Read More

    In Vivo Investigation of the Safety and Efficacy of Pulsed Dye Laser with Two Spot Sizes in Port-Wine Stain Treatment: A Prospective Side-by-Side Comparison.
    Photomed Laser Surg 2017 Sep 31;35(9):465-471. Epub 2017 May 31.
    1 Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao tong University , School of Medicine, Shanghai, China .
    Objective: Pulsed dye laser (PDL) with 7 and 10 mm spot sizes is widely used on a regular basis for the treatment of port-wine stain (PWS).

    Background Data: No studies have reported on the differences in efficacy outcomes resulting from the use of different laser spot sizes in the treatment of PWS by PDL. Thus, an in vivo investigation into the differences in safety and efficacy of treatment between two spot sizes (7 vs. Read More

    Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
    Am J Med Genet A 2017 Sep 26;173(9):2346-2352. Epub 2017 Jun 26.
    Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Osaka, Japan.
    RASopathies are phenotypically overlapping genetic disorders caused by dysregulation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, Noonan-like syndrome, hereditary gingival fibromatosis, and capillary malformation/arteriovenous malformation syndrome. Recently, six patients with craniosynostosis and Noonan syndrome involving KRAS mutations were described in a review, and a patient with craniosynostosis and Noonan syndrome involving a SHOC2 mutation has also been reported. Read More

    A review of craniofacial and dental findings of the RASopathies.
    Orthod Craniofac Res 2017 Jun;20 Suppl 1:32-38
    Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA.
    Objectives: The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). These disorders affect multiple systems, including the craniofacial complex. Read More

    Fingertip Capillary Malformation and Associated Disorders: Report of 9 Cases.
    Pediatrics 2017 Jul 15;140(1). Epub 2017 Jun 15.
    Department of Dermatology, Vascular Anomalies Center, University Clinic of Navarra, Pamplona, Spain
    Although capillary malformations (CMs) are not usually serious health problems in themselves, they can occasionally be warning signs for syndromes with more serious or aggressive vascular malformations not readily apparent at birth or on initial examination. We describe a series of 9 patients with a common phenotype: (1) CM on the fingertips; (2) associated combined vascular (lymphatic-venous) malformations on the trunk and/or extremities; and (3) in some cases, partial overgrowth and asymmetry of the extremities. Data were collected retrospectively for patients with CM on the fingertips who were treated at 2 Vascular Anomalies Centers from January 2006 to January 2016. Read More

    Dyspnoea on exertion in a 53-year-old woman.
    Heart 2017 Sep 10;103(17):1390-1391. Epub 2017 Jun 10.
    Division of Interventional Cardiology, Onassis Cardiac Surgery Center, Athens, Greece.
    Clinical Introduction: A 53-year-old woman with no previous medical history complained of easy fatigue over the last 6 months. She had a positive family history for coronary artery disease but no other risk factors. On physical examination, a 3/6 pansystolic murmur was heard over the apex, and the lung auscultation was unremarkable. Read More

    Coexistence of EphB1 and EphrinB2 in Port Wine Stain Endothelial Progenitor Cells Contributes to Clinicopathological Vasculature Dilatation.
    Br J Dermatol 2017 Jun 9. Epub 2017 Jun 9.
    Department of Surgery, Beckman Laser Institute and Medical Clinic, University of California, Irvine, Irvine, California, 92612, USA.
    Port wine stain (PWS) is a vascular malformation characterized by a progressive dilatation of post-capillary venules, but the molecular pathogenesis remains obscure. We hypothesized that PWS endothelial cells (ECs) present a unique molecular phenotype that lead to pathoanatomic PWS vasculatures. We herein show multiple clinicopathologic features of PWS blood vessels during the development and progression of the disease. Read More

    [Pediatric salivary gland tumors and tumor-like lesions].
    Pathologe 2017 Jul;38(4):294-302
    Klinik für Hals‑, Nasen- und Ohrenheilkunde (HNO), Klinikum Augsburg, Sauerbruchstraße 6, 86156, Augsburg, Deutschland.
    Salivary gland tumors and tumor-like lesions in the pediatric population are uncommon. They comprise a heterogeneous group of infectious/inflammatory and neoplastic conditions. Pediatric salivary neoplasms include benign tumors of mesenchymal or epithelial origin as well as malignancies of epithelial (carcinomas), mesenchymal (sarcoma) or hematolymphoid (lymphoma) derivation. Read More

    [PIK3CA-related overgrowth syndrome (PROS)].
    Nephrol Ther 2017 Apr;13 Suppl 1:S155-S156
    Inserm U1151, hôpital Necker-Enfants malades, 149, rue de Sèvres, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, 149, rue de Sèvres, 75015 Paris, France; Service de néphrologie transplantation adultes, hôpital Necker-Enfants malades, 149, rue de Sèvres, 75015 Paris, France. Electronic address:
    This review presents an overview of a recently characterized spectrum of overgrowth syndrome: phosphoinositide-3 kinase (PI3K)-related overgrowth spectrum (PROS). This spectrum encompasses overgrowth syndromes associated with somatic mosaic activating PIK3CA mutations such as megalencephaly-capillary malformation (MCAP) syndrome, dysplatic megalencephaly (DMEG), congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, hemihyperplasia-multiple lipomatosis (HHML), fibroadipose overgrowth and Klippel-Trenaunay syndrome. Mosaic gain of function mutation in PIK3CA gene leads to abnormal AKT-mTOR pathway activation and is responsible of the clinical manifestations. Read More

    Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease.
    PLoS One 2017 2;12(6):e0178753. Epub 2017 Jun 2.
    Division of Ocular Neurodegeneration, Institute for Ophthalmic Research, Centre for Ophthalmology, Tuebingen, Germany.
    Loss of Norrin signalling due to mutations in the Norrie disease pseudoglioma gene causes severe vascular defects in the retina, leading to visual impairment and ultimately blindness. While the emphasis of experimental work so far was on the developmental period, we focus here on disease mechanisms that induce progression into severe adult disease. The goal of this study was the comprehensive analysis of the long-term effects of the absence of Norrin on vascular homeostasis and retinal function. Read More

    Pial Arteriovenous Fistula and Capillary Malformation-Arteriovenous Malformation Associated with RASA1 Mutation: 2 Pediatric Cases with Successful Surgical Management.
    Pediatr Neurosurg 2017 31;52(4):261-267. Epub 2017 May 31.
    Division of Pediatric Epilepsy, Department of Pediatric Neurology, Rainbow Babies and Children's Hospital, and Department of Neurology and Neurosurgery, The Neurological Institute, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
    We present case reports of 2 pediatric patients who were both found to have pial arteriovenous fistulas (AVFs) with subsequent genetic analysis revealing mutations in the RASA1 gene. Considering their family history of distinct cutaneous lesions, these mutations were likely inherited as opposed to de novo mutations. Patient 1 had large capillary malformations on the left side of the face and neck, associated with macrocephaly, and presented at the age of 32 months with speech delay, right-sided weakness, and focal seizures involving the right side of the body. Read More

    Congenital capillary proliferation of the kidney: a distinctive renal vascular lesion of childhood.
    Hum Pathol 2017 Aug 26;66:59-66. Epub 2017 May 26.
    Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, - Chicago, IL 60611.
    Renal vascular lesions (RVL) are rare, and their morphological spectrum remains largely unknown, particularly in children. In this study, we characterize the clinicopathological features of RVL in a cohort of 12 children. Seven lesions were classified as previously recognized entities: vascular malformations (4), papillary endothelial hyperplasia (2), and pyogenic granuloma (lobular capillary hemangioma; 1). Read More

    Epidemiology, genetics, pathophysiology, and prognostic classifications of cerebral arteriovenous malformations.
    Handb Clin Neurol 2017 ;143:5-13
    Department of Neurological Surgery, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
    Arteriovenous malformations (AVMs) are vascular deformities involving fistula formation of arterial to venous structures without an intervening capillary bed. Such anomalies can prove fatal as the high arterial flow can disrupt the integrity of venous walls, thus leading to dangerous sequelae such as hemorrhage. Diagnosis of these lesions in the central nervous system can often prove challenging as intracranial AVMs represent a heterogeneous vascular pathology with various presentations and symptomatology. Read More

    A Diagnostic Program of Vascular Tumor and Vascular Malformations in Children According to Modern Classification.
    Acta Medica (Hradec Kralove) 2017;60(1):19-26. Epub 2017 May 26.
    Pediatric Surgery Department, Bogomolets National Medical University, Kyiv, Ukraine.
    The aim of the study was to analyze the cohort of inpatient children with vascular anomalies according to the globally accepted classification introduced by the ISSVA.

    Methods: The study included 205 inpatient children within the time period of the years 2010-2015. Types of vascular anomalies (VAs), age of patients, diagnostic procedures, and anatomical localization of VAs were analyzed. Read More

    An update of 77 cases diagnosed as oral hemangiomas based on GLUT-1 positivity.
    Exp Mol Pathol 2017 Aug 22;103(1):9-13. Epub 2017 May 22.
    Postgraduate Program, Oral Pathology, Federal University of Rio Grande do Norte, Natal, RN, Brazil.
    Objectives: To evaluate cases diagnosed as "oral hemangiomas" based on the immunohistochemical expression of human glucose transporter protein (GLUT-1) and on histopathological features, and to investigate whether the classification proposed by the ISSVA was used correctly to classify these lesions.

    Material And Methods: All cases stored in the archives of an Oral Pathology Service and diagnosed as "oral hemangiomas" were reviewed. Seventy-seven cases were analyzed regarding the expression of GLUT-1. Read More

    Urinary Excretion of MicroRNA-126 Is a Biomarker for Hemangioma Proliferation.
    Plast Reconstr Surg 2017 Jun;139(6):1277e-1284e
    Columbus, Ohio From the Department of Plastic Surgery, the Department of Biomedical Informatics, Center for Biostatistics, the Department of Surgery, and the Divisions of Vascular Surgery and General Surgery, The Ohio State University; and the Department of Pediatrics, the Hemangioma and Vascular Malformation Clinic, and the Department of Pediatrics, Division of Dermatology, Nationwide Children's Hospital.
    Background: Hemangiomas are unique endothelial cell tumors that involute spontaneously, which makes interpreting their response to therapies difficult. The objective of this work was to identify a potential biomarker in the urine of children with infantile hemangiomas that would facilitate testing new therapies.

    Methods: A prospective longitudinal study in children with hemangiomas and age-matched healthy controls was performed to determine whether microRNA-126, which is highly abundant in fetal endothelial cells, was more abundant in the urine of affected children. Read More

    RASA1 regulates the function of lymphatic vessel valves in mice.
    J Clin Invest 2017 Jun 22;127(7):2569-2585. Epub 2017 May 22.
    Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
    Capillary malformation-arteriovenous malformation (CM-AVM) is a blood and lymphatic vessel (LV) disorder that is caused by inherited inactivating mutations of the RASA1 gene, which encodes p120 RasGAP (RASA1), a negative regulator of the Ras small GTP-binding protein. How RASA1 mutations lead to the LV leakage defects that occur in CM-AVM is not understood. Here, we report that disruption of the Rasa1 gene in adult mice resulted in loss of LV endothelial cells (LECs) specifically from the leaflets of intraluminal valves in collecting LVs. Read More

    Cerebral hemorrhage in monozygotic twins with hereditary hemorrhagic telangiectasia: case report and hemorrhagic risk evaluation.
    J Neurosurg Pediatr 2017 Aug 19;20(2):164-169. Epub 2017 May 19.
    Pediatric Neurology, Department of Pediatrics, Vanderbilt University Medical Center, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee.
    The authors present a case of monozygotic twins with hereditary hemorrhagic telangiectasia (HHT) who experienced cerebral arteriovenous malformation (AVM) hemorrhage at a very young age. The clinical variables influencing HHT-related AVM rupture are discussed, and questions surrounding the timing of screening and intervention are explored. This is only the second known case of monozygotic HHT twins published in the medical literature, and the youngest pair of first-degree relatives to experience AVM-related cerebral hemorrhage. Read More

    Management of a Life Threatening Bleeding Following Extraction of Deciduous Second Molar Related to a Capillary Haemangioma.
    Craniomaxillofac Trauma Reconstr 2017 Jun 16;10(2):166-170. Epub 2017 Mar 16.
    Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Ain Shams University, Cairo, Egypt.
    Various forms of vascular lesion affect the head and neck region. The head and neck vascular lesions are classified into neoplasms and malformations. Neoplasm presents either as hemangioma or lymphangioma; neoplasm usually presents in young age compared with vascular malformation. Read More

    Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
    J Mol Diagn 2017 Jul 11;19(4):613-624. Epub 2017 May 11.
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. Electronic address:
    Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway. Because of the low-abundance nature of these variants, Sanger sequencing often yields negative results. We have developed and validated a next-generation sequencing (NGS) panel that targets all known variants associated with these syndromes. Read More

    A case of pulsatile scalp swelling in a child.
    BMJ Case Rep 2017 May 3;2017. Epub 2017 May 3.
    Department of Radiology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.
    Arteriovenous fistulas (AVF) are an entity most commonly seen in the head and neck region. An AVF is a direct connection between the arterial feeders and the draining veins without intervening capillary beds (unlike an arteriovenous malformation in which a nidus intervenes between the arteries and veins). We describe a case of traumatic AVF in a child aged 9 years, who presented with a pulsatile scalp swelling following blunt trauma to the head. Read More

    Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia.
    Clin Case Rep 2017 May 13;5(5):559-566. Epub 2017 Mar 13.
    Department of Anatomical Pathology (Seals)Prince of Wales HospitalSydneyNew South WalesAustralia.
    Alveolar capillary dysplasia (ACD) is a rare condition with variable presentation and clinical course. Clinicians should consider this diagnosis in neonates presenting with nonlethal congenital gastrointestinal malformation, a period of well-being after birth then unremitting hypoxemia and refractory pulmonary hypertension. Lung biopsy and FOXF1 gene testing may help in diagnosis. Read More

    Vascular Anomalies: A Pediatric Surgeon's Perspective.
    Indian J Pediatr 2017 Aug 3;84(8):612-617. Epub 2017 May 3.
    Department of Pediatric Surgery, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
    Anomalies affecting the capillary and venous channels form the bulk of the spectrum of vascular anomalies. As per International Society for the Study of Vascular Anomalies (ISSVA) classification, these are referred to as hemangiomas and venous malformations respectively. The present article is a descriptive note of their management and outcomes. Read More

    A systematic characterization of the factors influencing polymerization and dynamic behavior of n-butyl cyanoacrylate.
    J Neurointerv Surg 2017 May 2. Epub 2017 May 2.
    Department of Clinical Neurological Sciences, London Health Sciences Centre, London, Ontario, Canada.
    Introduction: Brain arteriovenous malformations are abnormal connections between arteries and veins without an intervening capillary bed. Endovascular glue embolization with N-butyl cyanoacrylate (NBCA) is an accepted form of treatment. The reported complication rates vary widely from 2% to 15%, and timing of polymerization appears to play a major role. Read More

    Retrospective single center study of the efficacy of large spot 532 nm laser for the treatment of facial capillary malformations in 44 patients with the use of three-dimensional image analysis.
    Lasers Surg Med 2017 Oct 22;49(8):743-749. Epub 2017 Apr 22.
    Klinika Ambroziak, Warsaw, Poland.
    Objective: We wanted to asses the efficacy of large spot 532 nm laser for the treatment of facial capillary malformations with the use of three-dimensional (3D) image analysis.

    Study Design And Methods: Retrospective single center study on previously non-treated patients with facial capillary malformations (CM) was performed. A total of 44 consecutive Caucasian patients aged 5-66 were included. Read More

    One-Stage Supramaximal Full-Thickness Wedge Resection of Vascular Lip Anomalies.
    J Oral Maxillofac Surg 2017 Mar 22. Epub 2017 Mar 22.
    Staff, Vascular Birthmark Institute of New York, Department of Otolaryngology, Lenox Hill and Manhattan Eye, Ear, and Throat Hospitals, New York, NY; Assistant Clinical Professor, Department of Ophthalmology, Harvard Medical School, Boston, MA. Electronic address:
    Purpose: Vascular lip anomalies include infantile hemangiomas, venous malformations, and arteriovenous malformations. Surgical management can be complicated by alterations in horizontal length, vertical height, and lip thickness from the underlying pathology. Additional reconstructive challenges include preservation of oral continence, vermillion definition, and the sublabial sulcus. Read More

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