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    Painless Urethral Bleeding During Penile Erection in an Adult Man With Klippel-Trenaunay Syndrome: A Case Report.
    Sex Med 2018 Feb 13. Epub 2018 Feb 13.
    Department of Urology, Beijing Chao-Yang Hospital, Capital Medical University, Beijing, China. Electronic address:
    Introduction: Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder characterized by a triad of cutaneous port wine capillary malformations, varicose veins, and hemihypertrophy of bone and soft tissues.

    Aims: To report on a rare case of KTS in an adult man manifested by painless urethral bleeding during penile erection briefly review the clinical presentation and management of the genitourinary forms of this syndrome.

    Methods: On presentation, the clinical features of this patient, including medical history, signs and symptoms, and imaging examinations, were recorded. Read More

    CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
    Genet Med 2018 Feb 15. Epub 2018 Feb 15.
    Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
    PurposeCLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. Here we tested the hypothesis that, although the genetic cause is not known, the tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism.MethodsWe clinically evaluated a cohort of 13 patients with CLAPO and screened 20 DNA blood/tissue samples from 9 patients using high-throughput, deep sequencing. Read More

    Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.
    Brain 2018 Feb 9. Epub 2018 Feb 9.
    Institut National de la Santé et de la Recherche Médicale (Inserm) UMR-1169 and University Paris Sud, Le Kremlin Bicêtre, 94276, France.
    Vein of Galen aneurysmal malformation is a congenital anomaly of the cerebral vasculature representing 30% of all paediatric vascular malformations. We conducted whole exome sequencing in 19 unrelated patients presenting this malformation and subsequently screened candidate genes in a cohort of 32 additional patients using either targeted exome or Sanger sequencing. In a cohort of 51 patients, we found five affected individuals with heterozygous mutations in EPHB4 including de novo frameshift (p. Read More

    Zic Family Proteins in Emerging Biomedical Studies.
    Adv Exp Med Biol 2018 ;1046:233-248
    Department of Medical Pharmacology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
    Zic family proteins have been investigated in various biomedical studies. Here we summarize the contact points between Zic proteins and recent medical research. The topics cover a wide range, reflecting the pleiotropic roles of these proteins in early embryogenesis and organogenesis. Read More

    Vascular malformations: classification, diagnosis and treatment.
    Int Angiol 2018 Feb 8. Epub 2018 Feb 8.
    Faculty of Medicine of the University of Porto, Porto, Portugal.
    Background: Vascular malformations are congenital lesions with complex clinical presentations and management. Their classification and treatment options have considerably changed throughout the years, with conflicting evidence in the literature. In this article, we aim to review the classification, diagnosis and treatment of the main vascular malformations. Read More

    Vascular Anomalies (Part II): Interventional Therapy of Peripheral Vascular Malformations.
    Rofo 2018 Feb 7. Epub 2018 Feb 7.
    Department for Radiology, Martin-Luther-Universität Halle-Wittenberg, Halle, Germany.
    Background:  The International Society for the Study of Vascular Anomalies (ISSVA) categorizes vascular anomalies into vascular tumors and vascular malformations. Vascular malformations are further divided into slow-flow (venous, lymphatic, and capillary malformation) and fast-flow malformations (arteriovenous malformation and arteriovenous fistula). This interdisciplinary classification has therapeutic implications. Read More

    Analysis of quality of life and influencing factors in 197 Chinese patients with port-wine stains.
    Medicine (Baltimore) 2017 Dec;96(51):e9446
    Department of Dermatology.
    Port-wine stains (PWS) are congenital capillary malformations, usually occurring on the face, neck, and other exposed parts of the skin, that have serious psychological and social impact on the patient. Most researchers focus on the treatment of PWS, but the quality of life (QoL) of PWS patients is seldom researched. The objective of this study is to evaluate the QoL of patients with PWS on exposed parts and explore the factors influencing the QoL of PWS patients. Read More

    Superior vena cava syndrome secondary to recurrent coronary artery fistula: A case report and literature review.
    Medicine (Baltimore) 2017 Dec;96(51):e9111
    Department of Cardiology, The Second Xiangya Hospital of Central South University, Chang Sha, China.
    Rationale: Coronary artery fistula (CAF) is characterized by an abnormal communication of a coronary artery with a cardiac chamber or a great vessel bypassing the capillary bed. Surgical closure of large or symptomatic CAF is the gold standard treatment. However the previously closed CAF still has the possibility to reopen. Read More

    Prospective analysis of the port-wine stain patient population in the Netherlands in light of novel treatment modalities.
    J Cosmet Laser Ther 2018 Jan 31:1-8. Epub 2018 Jan 31.
    a Department of Experimental Surgery, Academic Medical Center , University of Amsterdam , Amsterdam , The Netherlands.
    Background: Pulsed dye laser is the gold standard for port-wine stain (PWS) treatment. However, pulsed dye lasers achieve suboptimal clinical results in a majority of patients. Patient demand for novel therapies and willingness to participate in clinical studies is currently unknown, yet, imperative for steering R&D activity. Read More

    Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report.
    Medicine (Baltimore) 2017 Nov;96(47):e8853
    Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Kyung Hee University School of Medicine.
    Rationale: Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyperextensibility of skin and joint hypermobility but also by early mortality due to rupture of arteries or vital organs. Although pulmonary complications are not common, vEDS cases complicated by pneumothorax, hemothorax, or intrapulmonary hematoma have been reported. Read More

    Pulmonary vascular development in congenital diaphragmatic hernia.
    Eur Respir Rev 2018 Mar 24;27(147). Epub 2018 Jan 24.
    Dept of Pediatric Surgery, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands
    Congenital diaphragmatic hernia (CDH) is a rare congenital anomaly characterised by a diaphragmatic defect, persistent pulmonary hypertension (PH) and lung hypoplasia. The relative contribution of these three elements can vary considerably in individual patients. Most affected children suffer primarily from the associated PH, for which the therapeutic modalities are limited and frequently not evidence based. Read More

    Human genetics and molecular mechanisms of vein of Galen malformation.
    J Neurosurg Pediatr 2018 Jan 19:1-8. Epub 2018 Jan 19.
    Department of Neurosurgery.
    Vein of Galen malformations (VOGMs) are rare developmental cerebrovascular lesions characterized by fistulas between the choroidal circulation and the median prosencephalic vein. Although the treatment of VOGMs has greatly benefited from advances in endovascular therapy, including technical innovation in interventional neuroradiology, many patients are recalcitrant to procedural intervention or lack accessibility to specialized care centers, highlighting the need for improved screening, diagnostics, and therapeutics. A fundamental obstacle to identifying novel targets is the limited understanding of VOGM molecular pathophysiology, including its human genetics, and the lack of an adequate VOGM animal model. Read More

    [Phakomatosis pigmentovascularis cesioflammea: a case report].
    Arch Argent Pediatr 2018 Feb;116(1):e121-e124
    Servicio de Dermatología, Hospital Nacional de Pediatría "Prof. Dr. J. P. Garrahan", Ciudad Autónoma de Buenos Aires.
    Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis). There are different types of PPV according to the pigmentary nevus associated with the vascular malformation. Patients may present only the cutaneous condition or have systemic manifestations, among them, trauma, neurological and ophthalmological disorders. Read More

    Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF.
    Pigment Cell Melanoma Res 2018 Jan 5. Epub 2018 Jan 5.
    Dermatological Group Practice, Lübeck, Germany.
    Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A 71-year-old patient with a giant congenital melanocytic nevus (CMN) of the lower back, buttocks, and thighs was asymptomatic except for unexpected hemorrhage during partial surgical excision years before. Read More

    De Novo Arteriovenous Malformation in a Pediatric Patient: Case Report and Review of the Literature.
    World Neurosurg 2017 Dec 30. Epub 2017 Dec 30.
    Lyerly Neurosurgery, Baptist Health, Jacksonville, Florida; Division of Pediatric Neurosurgery, University of Florida Health Jacksonville, Jacksonville, Florida. Electronic address:
    Background: An arteriovenous malformation (AVM) consists of a pathological arterio-venous shunt formed from a tangle of vessels lacking a capillary bed. AVMs were previously accepted as congenital in nature, however, an increase in the number of reported de novo cerebral AVMs challenges the assertion that all AVMs develop in utero hence, the possibility of these lesions presenting postnatally cannot be excluded. A review of literature revealed 31 published cases of de novo AVM formation between 1996 and 2017. Read More

    Combined approach to management of periocular arteriovenous malformation by interventional radiology and surgical excision.
    Indian J Ophthalmol 2018 Jan;66(1):151-154
    Department of Interventional Radiology, Apollo Specialty Hospitals, Chennai, Tamil Nadu, India.
    Periorbital arteriovenous malformations (AVMs) are congenital lesions that may cause significant morbidity such as amblyopia, cosmetic disfigurement, or chronic pain. Due to the rarity of these lesions, they are frequently misdiagnosed and treated inappropriately. We managed a 6-year-old girl with preseptal AVM by endovascular embolization followed by complete surgical excision after 2 days. Read More

    Incidental branch retinal artery occlusion on optical coherence tomography angiography presenting as segmental optic atrophy in a child: a case report.
    BMC Ophthalmol 2017 Dec 19;17(1):256. Epub 2017 Dec 19.
    Department of Ophthalmology, Maryknoll Medical Center, 121, Junggu-ro, Jung-gu, Busan, 48972, South Korea.
    Background: Retinal artery occlusion is extremely rare in the pediatric population and most patients have risk factors. We report a case of a healthy child with segmental optic atrophy, complicated by incidental branch retinal artery occlusion (BRAO).

    Case Presentation: A 10-year-old boy who had a history of his mother's gestational diabetes presented with an inferonasal visual field defect in the left eye. Read More

    Endoscopic Treatment for Gastric Antral Vascular Ectasia: Current Options.
    GE Port J Gastroenterol 2017 Jul 21;24(4):176-182. Epub 2016 Dec 21.
    Division of Gastroenterology, University of Alberta, Edmonton, AB, Canada.
    Gastric antral vascular ectasia (GAVE) is a capillary-type vascular malformation located primarily in the gastric antrum. Patients can present with iron-deficiency anemia, overt gastrointestinal bleeding, or both. Diagnosis and characterization is made at endoscopic examination, and the preferred management of patients with GAVE is endoscopic therapy. Read More

    Inhibiting DPP4 in a mouse model of HHT1 results in a shift towards regenerative macrophages and reduces fibrosis after myocardial infarction.
    PLoS One 2017 18;12(12):e0189805. Epub 2017 Dec 18.
    Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, the Netherlands.
    Aims: Hereditary Hemorrhagic Telangiectasia type-1 (HHT1) is a genetic vascular disorder caused by haploinsufficiency of the TGFβ co-receptor endoglin. Dysfunctional homing of HHT1 mononuclear cells (MNCs) towards the infarcted myocardium hampers cardiac recovery. HHT1-MNCs have elevated expression of dipeptidyl peptidase-4 (DPP4/CD26), which inhibits recruitment of CXCR4-expressing MNCs by inactivation of stromal cell-derived factor 1 (SDF1). Read More

    Combined capillary-venous-lymphatic malformations without overgrowth in patients with Klippel-Trénaunay syndrome.
    J Vasc Surg Venous Lymphat Disord 2018 Mar 8;6(2):230-236. Epub 2017 Dec 8.
    Paediatric Surgery Division, La Paz Children's Hospital, Madrid, Spain.
    Objective: Klippel-Trénaunay syndrome (KTS) is described in the literature as a complex syndrome characterized by various combinations of capillary, venous, and lymphatic malformations associated with limb overgrowth. In the first description by Maurice Klippel and Paul Trénaunay, tridimensional bone hypertrophy was believed to be the cause of limb enlargement. The purpose of this study was primarily to assess the presence of real bone hypertrophy as a cause of enlargement of the limb and to underline the rare presence of undergrowth of the affected limb in patients with KTS. Read More

    Capillary Malformations (Portwine Stains) of the Head and Neck: Natural History, Investigations, Laser, and Surgical Management.
    Otolaryngol Clin North Am 2018 Feb;51(1):197-211
    Department of Plastic and Reconstructive Surgery, Kyungpook National University School of Medicine, 130 Dongdeok-ro, Jung-gu, Daegu 41944, Republic of Korea. Electronic address:
    Capillary malformations (CMs), also known as port-wine stains, are the most common type of congenital vascular malformations. Facial CM often occurs with a quasidermatomal distribution according to the sensory trigeminal nerve distribution. With time, these lesions darken progressively, and soft tissue hypertrophy, bony hypertrophy, and/or nodule formation can develop. Read More

    Histologic Evaluation of Explanted Tissue-Engineered Bovine Pericardium (CardioCel).
    Semin Thorac Cardiovasc Surg 2017 Autumn;29(3):356-363. Epub 2017 Jun 1.
    Queensland Paediatric Cardiac Services, Lady Cilento Children's Hospital, Brisbane, Australia; School of Medicine, University of Queensland, Brisbane, Australia; Mater Research Institute, University of Queensland, Brisbane, Australia. Electronic address:
    CardioCel is a bovine pericardium that is subjected to a novel anticalcification tissue-engineering process. We present the histopathologic findings of human explants of CardioCel that were used in operations for congenital heart disease in children. Six explants were identified from 140 patients undergoing CardioCel implants from October 2012 to March 2015. Read More

    Focal neurons: another source of vascular endothelial growth factor in brain arteriovenous malformation tissues?
    Neurol Res 2018 Feb 30;40(2):122-129. Epub 2017 Nov 30.
    a Department of Neurosurgery , Xiangya Hospital, Central South University , Changsha , P.R. China.
    Background Brain arteriovenous malformations (bAVMs) are devastating, hemorrhage-prone, cerebrovascular entities characterized by well-defined feeding arteries, draining veins, and the absence of a capillary bed. The endothelial cells that comprise bAVMs exhibit a loss of arterial and venous specification. The role of abnormal angiogenesis in the formation and progression of bAVMs is still unclear. Read More

    Capillary Malformations Treated With Sequential Pulsed Dye and Nd:YAG Laser Therapy: A Retrospective Study.
    Actas Dermosifiliogr 2017 Nov 25. Epub 2017 Nov 25.
    Servicio de Dermatología, Hospital Universitario Ramón y Cajal, Madrid, España; Universidad de Alcalá, Alcalá de Henares, Madrid, España.
    Introduction And Objective: Capillary malformations are the most common vascular malformations in childhood. The current treatment of choice is pulsed dye laser (PDL) therapy, but this frequently does not result in complete resolution. The search for alternative treatment strategies thus continues. Read More

    Clinical and genetic findings in children with central nervous system arteriovenous fistulas.
    Ann Neurol 2017 Dec 12;82(6):972-980. Epub 2017 Dec 12.
    Department of genetics, Hopital Pitié-Salpêtrière, Paris, France.
    Objective: To assess the spectrum of genetic anomalies in a cohort of children presenting at least one cerebral or spinal pial arteriovenous fistula (AVF), and to describe their clinical characteristics.

    Methods: From 1988 to 2016, all consecutive patients with at least one cerebral or spinal pial AVF were screened for genetic disease. All patients aged <18 years were included. Read More

    Port-Wine Stains: A Focused Review on Their Management.
    J Drugs Dermatol 2017 Nov;16(11):1145-1151

    Port-wine stain (PWS) is the second most common congenital vascular malformation characterized as ectatic capillaries and venules in the dermis that clinically appears as a deep red to purple patch on the skin. Typically, PWS progressively darken and may become hypertrophic or nodular without treatment. There are several treatment options available for PWS from topical antiangiogenic agents to laser therapies. Read More

    A coronary artery fistula having connection between 2 coronary arteries and the left ventricle: A case report.
    Medicine (Baltimore) 2017 Nov;96(45):e8546
    Division of Cardiology, Daegu Catholic University Medical Center, Daegu, Korea.
    Rationale: Cases of coronary artery fistula having a connection with the cardiac cavity are rare. Here, we report a case in which 2 coronary arteries empty into the left ventricular cavity together.

    Patient Concerns: A 63-year-old woman who was diagnosed as having hypertension 20 years prior presented with dyspnea. Read More

    RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis.
    Pediatr Dermatol 2018 Jan 9;35(1):e9-e12. Epub 2017 Nov 9.
    Department of Dermatology, University of Virginia Health System, Charlottesville, VA, USA.
    We describe a family who presented with several scattered, vascular, cutaneous lesions and was found to have a novel mutation in RASA1, diagnostic of capillary malformation-arteriovenous malformation syndrome. Our patient was initially given a presumptive clinical diagnosis of hereditary hemorrhagic telangiectasia. Capillary malformation-arteriovenous malformation syndrome shares several features with hereditary hemorrhagic telangiectasia and hereditary benign telangiectasia, but it can be distinguished clinically according to its morphologic appearance and distribution of cutaneous vascular lesions, the presence of internal fast-flow lesions, and genetic analysis. Read More

    In vitro characteristics of endothelial cells prepared from human cerebral arteriovenous malformation lesions using a novel method.
    Microvasc Res 2018 Mar 28;116:57-63. Epub 2017 Oct 28.
    Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, No. 6 Tiantan Xili, Dongcheng District, Beijing 100050, People's Republic of China; China National Clinical Research Center for Neurological Diseases, Beijing, People's Republic of China; Stroke Center, Beijing, Institute for Brain Disorders, Beijing, People's Republic of China; Beijing Key Laboratory of Translational Medicine for Cerebrovascular Disease, Beijing, People's Republic of China; Basic Medical Science Department, Capital Medical University, No. 10 Xitoutiao, Youanmanwai, Fengtai District, Beijing, People's Republic of China; Department of Neurosurgery, Peking University International Hospital, Peking University, No. 1, Life Garden Road, Zhongguancun Life Science Park, Changping District, Beijing 102206, People's Republic of China. Electronic address:
    Background And Purpose: The cerebral arteriovenous malformation (cAVM) is a usual and continually unaware reason of heamorrhage and seizure. It contains of feeder arteries, drain veins and abnormal vessel nets. However, pathologic mechanisms of the development of cAVM are unknown. Read More

    Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE.
    Acta Derm Venereol 2018 Feb;98(2):251-255
    Department of Dermatology, CHRU Tours, Hospital Trousseau, Avenue de la République, FR-37044, Tours Cedex 9, France.
    Patients with an inherited autosomal-dominant disorder, capillary malformation-arteriovenous malformation (CM-AVM), frequently have mutations in Ras P21 protein activator 1 (RASA1). The aims of this study were to determine the prevalence of germline RASA1 variants in a French multicentre national cohort of children, age range 2-12 years, with sporadic occurrence of capillary malformation (CM) of the legs, whatever the associated abnormalities, and to identify genotype-phenotype correlates. DNA was extracted from leukocytes in blood samples, purified and amplified, and all exons of the RASA1 gene were analysed. Read More

    The Expanded Spectrum of Perifoveal Exudative Vascular Anomalous Complex.
    Am J Ophthalmol 2017 Dec 27;184:137-146. Epub 2017 Oct 27.
    Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy. Electronic address:
    Purpose: To expand our understanding of the uncommon entity, referred to as perifoveal exudative vascular anomalous complex (PEVAC) by describing multimodal imaging findings, including optical coherence tomography angiography (OCT-A).

    Design: Retrospective cohort study.

    Methods: Patients diagnosed with PEVAC were identified at 4 retina referral centers worldwide and underwent complete ophthalmologic examination including structural OCT, OCT-A, fluorescein angiography (FA), and indocyanine green angiography (ICGA). Read More

    Antiepileptic treatment strategy in vascular malformations.
    Curr Pharm Des 2017 Oct 27. Epub 2017 Oct 27.
    Department of Neurosurgery, Children`s Hospital "Aghia Sofia", Athens. Greece.
    Background: Antiepileptic treatment strategy plays an important role in the management of intracranial vascular malformations. The intracranial vascular malformations can be divided into cavernous hemangiomas, arteriovenous malformations, developmental venous anomalies and capillary telangiectasias. Seizures and hemorrhage are among their most common clinical manifestations. Read More

    Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation.
    Eur J Med Genet 2018 Jan 9;61(1):11-16. 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

    Pulmonary hypertension subtypes associated with hereditary haemorrhagic telangiectasia: Haemodynamic profiles and survival probability.
    PLoS One 2017 5;12(10):e0184227. Epub 2017 Oct 5.
    Service de Médecine interne, CHRU de Lille, Université de Lille, Lille, France.
    Background: Different pulmonary hypertension (PH) mechanisms are associated with hereditary haemorrhagic telangiectasia (HHT).

    Methods And Results: We conducted a retrospective study of all suspected cases of PH (echocardiographically estimated systolic pulmonary artery pressure [sPAP] ≥ 40 mmHg) in patients with definite HHT recorded in the French National Reference Centre for HHT database. When right heart catheterization (RHC) was performed, PH cases were confirmed and classified among the PH groups according to the European guidelines. 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, Manchester, UK.
    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 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 2018 Jan 7;46:369.e7-369.e11. 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 Nov - Dec;51(6):465-470. 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 08 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

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