2,809 results match your criteria Capillary Malformation


Treatment of Lymphatic Malformations with the mTOR Inhibitor Sirolimus: A Systematic Review.

Lymphat Res Biol 2018 Jun 20. Epub 2018 Jun 20.

Department of Otolaryngology, Head and Neck Surgery, University of Leipzig , Leipzig, Germany .

Background: Extensive lymphatic malformations are low-flow vascular malformations that can cause devastating complications. Treatment of these malformations is challenging. This systematic review presents current use of sirolimus in patients with extensive lymphatic malformations. Read More

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A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome.

J Hum Genet 2018 Jun 15. Epub 2018 Jun 15.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

Microcephaly-capillary malformation syndrome is a congenital and neurodevelopmental disorder caused by biallelic mutations in the STAMBP gene. Here we identify the novel homozygous mutation located in the SH3 binding motif of STAMBP (NM_006463.4) (c. Read More

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Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.

Eur J Hum Genet 2018 Jun 11. Epub 2018 Jun 11.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.

RASA1-related disorders are vascular malformation syndromes characterized by hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM), arteriovenous fistulas (AVF), or Parkes Weber syndrome. The number of cases reported is relatively small; and while the main clinical features are CMs and AVMs/AVFs, the broader phenotypic spectrum caused by variants in the RASA1 gene is still being defined. Here, we report the clinical and molecular findings in 69 unrelated cases with a RASA1 variant identified at ARUP Laboratories. Read More

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A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation.

Front Neurol 2018 25;9:383. Epub 2018 May 25.

Clinic of Neurology with Institute of Translational Neurology, University of Münster, Münster, Germany.

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the presence of renal cysts and specific extrarenal abnormalities. ADPKD is caused by mutations in either or genes that encode for integral membrane proteins Polycystin-1 (PC1) and Polycystin-2 (PC2), respectively. Extrarenal involvement includes noncystic manifestations such as dilatation of the aortic root, artery dissection and intracranial aneurysms. Read More

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Pain, psychiatric comorbidities, and psychosocial stressors associated with Klippel-Trenaunay Syndrome.

J Am Acad Dermatol 2018 Jun 5. Epub 2018 Jun 5.

Department of Dermatology, Mayo Clinic, Rochester, MN; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN. Electronic address:

Background: Klippel-Trenaunay syndrome (KTS) is characterized by the triad of capillary malformation (CM), venous malformation (VM) +/- lymphatic malformation, and limb overgrowth. Patients with KTS have lower scores in general and mental health, physical function, and quality of life than the general population.

Objective: To determine the prevalence of pain and psychiatric comorbidity in patients with KTS. Read More

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June 2018
3 Reads

Somatic GNAQ mutation in different structures of Port-wine Macrocheilia.

Br J Dermatol 2018 Jun 7. Epub 2018 Jun 7.

Department of Plastic and Reconstructive Surgery, Shanghai 9th Peoples Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, PR, China.

Background: The etiology of Port-wine macrocheilia (PWM), which involves a congenital, progressive capillary malformation that results in soft tissue hypertrophy in the lips, has not yet been fully elucidated.

Objective: We sought to investigate frequencies of GNAQ mutation in different tissues from patients with PWM, including skin, mucosa, gland and muscle, using samples obtained during cheiloplasty.

Method: Targeted next-generation sequencing (NGS) of GNAQ was designed and performed to assess DNA extracted from 80 different affected tissues from 20 patients with PWM. Read More

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June 2018
1 Read

Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies.

Rofo 2018 Jun 6. Epub 2018 Jun 6.

Department for Radiology, Martin-Luther-Universität Halle-Wittenberg, Halle, Germany.

Background:  Vascular anomalies are a diagnostic and therapeutic challenge. They require dedicated interdisciplinary management. Optimal patient care relies on integral medical evaluation and a classification system established by experts in the field, to provide a better understanding of these complex vascular entities. Read More

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Role of Interventional Radiology in the Management of Peripheral Vascular Malformations: A Tertiary Care Center Experience.

Cureus 2018 Mar 16;10(3):e2335. Epub 2018 Mar 16.

Department of Radiology, The Aga Khan University, Karachi.

Peripheral vascular malformations (PVMs) represent a wide spectrum of vascular abnormalities occurring due to anomalous connections between arteries, veins, capillaries, and lymphatic channels at the microscopic level, in different combinations. They are rare and challenging to treat. Different operators may have different approaches based on their experience and expertise. Read More

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Management of giant embryonic vein in Klippel-Trénaunay syndrome.

J Vasc Surg Venous Lymphat Disord 2018 Jul;6(4):523-525

Division of Vascular and Interventional Radiology, Mayo Clinic, Rochester, Minn.

Klippel-Trénaunay syndrome is a rare mixed malformation characterized by congenital varicose veins, low-flow venous and lymphatic malformations, hypertrophy of soft tissue and bone, and capillary malformations. A 35-year-old man with a diagnosis of Klippel-Trénaunay syndrome presented to the clinic with significant pain and swelling in the left leg. Initial conservative management with compression therapy failed. Read More

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Lower lip capillary malformation associated with lymphatic malformation without overgrowth: Part of the spectrum of CLAPO syndrome.

Pediatr Dermatol 2018 May 15. Epub 2018 May 15.

Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autónoma de Barcelona, Barcelona, Spain.

Characteristic lower lip capillary malformation of CLAPO syndrome (Capillary malformation of the lower lip, Lymphatic malformations of the face and neck, Asymmetry, and Partial or generalized Overgrowth) may also occur as an isolated lesion or with only minor anomalies, supporting the concept that there is a spectrum of abnormalities in CLAPO syndrome. Preliminary studies have demonstrated mosaic activating mutations in PIK3CA. Read More

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May 2018
2 Reads

Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome.

Pediatr Neurol 2018 Apr 12. Epub 2018 Apr 12.

Departments of Medicine and Radiology, Boston Children's Hospital, Boston, Massachusetts.

Background: Sturge-Weber syndrome (SWS) is often accompanied by seizures, stroke-like episodes, hemiparesis, and visual field deficits. This study aimed to identify early pathophysiologic changes that exist before the development of clinical symptoms and to evaluate if the apparent diffusion coefficient (ADC) map is a candidate early biomarker of seizure risk in patients with SWS.

Methods: This is a prospective cross-sectional study using quantitative ADC analysis to predict onset of epilepsy. Read More

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April 2018
1 Read

RAS signalling in energy metabolism and rare human diseases.

Biochim Biophys Acta 2018 May 8. Epub 2018 May 8.

Bordeaux University, 33000 Bordeaux, France; INSERM U1211, 33000 Bordeaux, France; CELLOMET, CGFB-146 Rue Léo Saignat, Bordeaux, France. Electronic address:

The RAS pathway is a highly conserved cascade of protein-protein interactions and phosphorylation that is at the heart of signalling networks that govern proliferation, differentiation and cell survival. Recent findings indicate that the RAS pathway plays a role in the regulation of energy metabolism via the control of mitochondrial form and function but little is known on the participation of this effect in RAS-related rare human genetic diseases. Germline mutations that hyperactivate the RAS pathway have been discovered and linked to human developmental disorders that are known as RASopathies. Read More

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[Cerebral cavernous malformation 3 gene deficiency promotes early changes in Alzheimer disease-like lesions induced by low lead exposure].

Zhonghua Yu Fang Yi Xue Za Zhi 2018 May;52(5):545-551

Sun Yat-sen University School of Public Health, Guangzhou 510080, China.

To investigate the effects of cerebral cavernous malformation 3 (CCM3) gene knockout on the lead exposure-induced blood-brain barrier malfunction in mice brain, and the relationship between CCM3 knockout and the Alzheimer's disease (AD). Wide type (WT) mice and CCM3(+)/- mice were divided into 4 groups, control group and lead exposed group in WT as well as CCM3(+/-) mice. Lead exposed groups were treated with 0. Read More

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Capillary malformation in the midline of the face: Salmon patch or port-wine stain?

J Dermatol 2018 May 3. Epub 2018 May 3.

Department of Plastic and Reconstructive Surgery, Shanghai 9th People's Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

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May 2018
4 Reads

Placental transmogrification of the lung presenting as a peripheral solitary nodule in a male with the history of trauma: A case report.

Medicine (Baltimore) 2018 May;97(18):e0661

Department of Pathology, the First Affiliated Hospital and College of Basic Medical Sciences, China Medical University, Shenyang, China.

Rationale: Placental transmogrification of the lung is a very rare lesion which was characterized by the presence of papillae resembling placental villi. Its pathogenesis still remains unclear. Some authors think that this lesion is congenital and related to hamartoma, and others advocate it is secondary change after emphysema. Read More

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Microarteriovenous Malformations-Value of Indocyanine Green Fluorescence and Nuances of Surgical Excision: 2-Dimensional Operative Video.

Oper Neurosurg (Hagerstown) 2018 Apr 27. Epub 2018 Apr 27.

Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota.

MicroAVMs (microarteriovenous malformation) are arteriovenous shunts with a nidus smaller than 1 centimeter.1 They are typically diagnosed after hemorrhage. When the nidus is very small, diagnosis can be challenging even on catheter angiography and careful examination of the arterial and capillary phases is required to identify the early shunt. Read More

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Efficacy and Safety of a Novel Method of Insulated Intralesional Radiofrequency Ablation for Deep Dermal and Subcutaneous Lesions: A 3-Year Institutional Experience.

Dermatol Surg 2018 May;44(5):714-720

All authors are affiliated with the Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.

Background: Although insulated intralesional radiofrequency ablation (IL-RFA) is being increasingly used in other specialties, not much information on its safety and efficacy in dermatology is available.

Objective: To describe our experience with insulated IL-RFA for various dermatological conditions.

Methods: This is a retrospective review of the patients who underwent IL-RFA in the past 3 years. Read More

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May 2018
2 Reads

Vascular Anomalies: From a Clinicohistologic to a Genetic Framework.

Plast Reconstr Surg 2018 May;141(5):709e-717e

Boston, Mass. From the Department of Plastic and Oral Surgery, Children's Hospital Boston, Harvard Medical School.

Background: Vascular anomalies currently are classified according to their clinical and histological characteristics. Recent advances in molecular genetics have enabled the identification of somatic mutations in most types of vascular anomalies. The purpose of this study was to collate information regarding the genetic basis of vascular anomalies. Read More

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May 2018
1 Read

Eight-and-a-Half Syndrome: A Combination of Intracranial Capillary Telangiectasia and Hematencephalon.

J Stroke Cerebrovasc Dis 2018 Jul 12;27(7):e135-e137. Epub 2018 Apr 12.

Department of Nerve medical center, The First Hospital of Changsha, Changsha, China.

Eight-and-a-half syndrome, a combination of one-and-a-half syndrome and ipsilateral facial palsy, was first described by Eggenberger in 1998. Intracranial capillary telangiectasia (ICT) is a rare type of latent cerebral vascular malformation characterized by a number of small, dilated, and thin-walled blood capillaries with normal brain tissues between them. Susceptibility weighted imaging is the recommended diagnostic method to detect ICT. Read More

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RF-Topical Rapamycin as an Adjuvant to Laser Treatment in Capillary Malformations.

Actas Dermosifiliogr 2018 Apr 7. Epub 2018 Apr 7.

Unidad de Láser, Departamento de Dermatología, Hospital Ramón y Cajal, Madrid, España.

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April 2018
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Evaluation of dynamic effects of therapy-induced changes in microcirculation after percutaneous treatment of vascular malformations using contrast-enhanced ultrasound (CEUS) and time intensity curve (TIC) analyses.

Clin Hemorheol Microcirc 2018 ;69(1-2):45-57

Institute of Radiology, University Medical Center Regensburg, Germany.

The aim of this follow-up study was to demonstrate the effect of percutaneous interventional treatment on local microcirculation of peripheral vascular malformations using CEUS and TIC analysis.

Material And Methods: Retrospective analysis of 197 patients (136 female; 61 male; 3-86 years) with 135 venous (VM), 39 arterio-venous (AVM), 8 lymphatic and 15 veno-lymphatic peripheral vascular malformations before and after the first percutaneous treatment.CEUS was performed after i. Read More

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June 2018
3 Reads

Gamma knife radiosurgery for arteriovenous malformations: general principles and preliminary results in a Swiss cohort.

Swiss Med Wkly 2018 04 3;148:w14602. Epub 2018 Apr 3.

University of Lausanne, Faculty of Biology and Medicine, Lausanne, Switzerland / Department of Clinical Neurosciences, Neurosurgery Service and Gamma Knife Centre, Lausanne University Hospital (CHUV), Lausanne, Switzerland.

Introduction: Arteriovenous malformations (AVMs) are a type of vascular malformation characterised by an abnormal connection between arteries and veins, bypassing the capillary system. This absence of capillaries generates an elevated pressure (hyperdebit), in both the AVM and the venous drainage, increasing the risk of rupture. Management modalities are: observation, microsurgical clipping, endovascular treatment and radiosurgery. Read More

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April 2018
2 Reads

Imaging and Pathologic findings of Hepatic Small Vessel Hemangioma.

Curr Probl Diagn Radiol 2018 Feb 14. Epub 2018 Feb 14.

Department of Radiology University of Pittsburgh Medical Center, Pittsburgh, PA. Electronic address:

Hepatic small vessel hemangioma represents a distinct yet very rare pathologic entity of the liver. The entity has also been in the past referred to as adult capillary hemangioma of the liver and congenital noninvoluting hemangioma. Imaging findings are not definitive and biopsy or resection is ultimately necessary. Read More

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February 2018
2 Reads

[Benign aggressive vascular anomalies in children].

Bull Cancer 2018 Jun 20;105(6):610-625. Epub 2018 Mar 20.

Centre de référence des maladies rares de la peau d'origine génétique, hôpital Pellegrin-Enfants, centre hospitalier universitaire de Bordeaux, unité de dermatologie pédiatrique, 33076 Bordeaux cedex, France.

Superficial vascular anomalies constitute a large group of malformative and tumoral conditions developed from all types of vessels. Vascular tumors are the result of cellular hyperplasia, whereas vascular malformations (VMs) are constituted of dysplastic vessels. The classification from International Society for the Study of Vascular Anomalies (ISSVA) is based on this pathogenic difference. Read More

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Vitamin B Nicotinamide: A Promising Candidate for Treating Preeclampsia and Improving Fetal Growth.

Tohoku J Exp Med 2018 03;244(3):243-248

Department of Medicine, Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University.

Up to 8% of pregnant women suffer from preeclampsia (PE), a deadly disease characterized by high blood pressure (BP), blood vessel damage, called endotheliosis (vascular endothelial swelling with narrowing of capillary lumen), and high levels of protein in the urine. PE is often associated with premature delivery, which is a risk factor of cardiovascular and metabolic diseases among the offspring. Accordingly, establishing drug treatments of PE is in immediate needs. Read More

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Retinal Arteriovenous Malformation Assessment Using Swept-Source OCT Angiography.

Ophthalmic Surg Lasers Imaging Retina 2018 Mar;49(3):216-219

Swept-source optical coherence tomography angiography (SS-OCTA) is a promising new imaging modality for assessing retinal and choroidal vasculature. Faster scanning speed, large number of A-scan acquisition, and enhanced depth penetration has enhanced the detailed analysis of retinal layers. The authors discuss SS-OCTA features of a rare case of retinal arteriovenous malformation. Read More

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In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

Neurogenetics 2018 May 16;19(2):77-91. Epub 2018 Mar 16.

Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari "Aldo Moro", Piazza G. Cesare, 11, Bari, Italy.

Postzygotic mutations of the PIK3CA [phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha] gene constitutively activate the PI3K/AKT/mTOR pathway in PIK3CA-related overgrowth spectrum (PROS) patients, causing congenital mosaic tissue overgrowth that even multiple surgeries cannot solve. mTOR inhibitors are empirically tested and given for compassionate use in these patients. PROS patients could be ideal candidates for enrolment in trials with PI3K/AKT pathway inhibitors, considering the "clean" cellular setting in which a unique driver, a PIK3CA mutation, is present. Read More

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May 2018
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Cerebellar Proliferative Angiopathy Associated with a Pontine Telangiectasia and a Developmental Venous Anomaly.

World Neurosurg 2018 Jun 13;114:106-110. Epub 2018 Mar 13.

Neuroradiology, Mater Dei Hospital, Belo Horizonte, Brazil.

Various mixed associations between arteriovenous malformations, cavernous malformations, developmental venous anomalies, and capillary telangiectasias have been described, and a common pathophysiologic event has been suggested to be present, although it is yet to be elucidated. We depict herein the imaging features of a patient who presented with a spontaneous cerebellar hemorrhage, in whom radiologic studies demonstrated a pontine telangiectasia, a brainstem/cerebellar developmental venous anomaly, and a cerebellar proliferative angiopathy. This unique, not previously reported combination of lesions shows that the spectrum of mixed vascular malformations continues to expand. Read More

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Congenital Retinal Macrovessel and the Association of Retinal Venous Malformations With Venous Malformations of the Brain.

JAMA Ophthalmol 2018 Apr;136(4):372-379

Stein Eye Institute, University of California, Los Angeles.

Importance: Congenital retinal macrovessel (CRM) is a rarely reported venous malformation of the retina that is associated with venous anomalies of the brain.

Objective: To study the multimodal imaging findings of a series of eyes with congenital retinal macrovessel and describe the systemic associations.

Design, Setting, And Participants: In this cross-sectional multicenter study, medical records were retrospectively reviewed from 7 different retina clinics worldwide over a 10-year period (2007-2017). Read More

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Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.

Pediatr Dermatol 2018 May 1;35(3):e186-e188. Epub 2018 Mar 1.

Department of Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.

A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term. Read More

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A child with Apert syndrome and Sturge-Weber syndrome: could fibronectin or the RAS/MAPK signaling pathway be the connection?

Childs Nerv Syst 2018 Jun 23;34(6):1247-1250. Epub 2018 Feb 23.

Great Ormond Street Hospital NHS Foundation Trust, Great Ormond St, London, WC1N 3JH, UK.

Background: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutation in genes encoding fibroblast growth factor receptor 2 (FGFR2). Craniosynostosis, midfacial hypoplasia, and syndactyly/symphalangism are features of this syndrome. Sturge-Weber syndrome (SWS) on the other hand is a congenital neurocutaneous disorder characterized by facial port-wine stains (PWSs) and leptomeningeal vascular capillary malformations. Read More

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June 2018
6 Reads

Painless Urethral Bleeding During Penile Erection in an Adult Man With Klippel-Trenaunay Syndrome: A Case Report.

Sex Med 2018 Jun 13;6(2):180-183. 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

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June 2018
2 Reads

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

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February 2018
2 Reads

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

Brain 2018 Apr;141(4):979-988

Institut National de la Santé et de la Recherche Médicale (Inserm) UMR-1169 and University Paris Sud, Le Kremlin Bicêtre, 94276, France.

See Meschia (doi:10.1093/brain/awy066) for a scientific commentary on this article.Vein of Galen aneurysmal malformation is a congenital anomaly of the cerebral vasculature representing 30% of all paediatric vascular malformations. Read More

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April 2018
4 Reads

Zic Family Proteins in Emerging Biomedical Studies.

Authors:
Jun Aruga

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

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January 2018

Commentary on "Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea".

Korean J Pediatr 2018 Jan 22;61(1):35-36. Epub 2018 Jan 22.

Department of Dermatology, Pusan National University School of Medicine, Busan, Korea.

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January 2018

Vascular malformations: classification, diagnosis and treatment.

Int Angiol 2018 Apr 8;37(2):127-142. Epub 2018 Feb 8.

Faculty of Medicine of the University of Porto, Porto, Portugal.

Introduction: 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

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April 2018
3 Reads

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

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February 2018
2 Reads

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

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December 2017
1 Read

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

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December 2017
2 Reads

Prospective analysis of the port-wine stain patient population in the Netherlands in light of novel treatment modalities.

J Cosmet Laser Ther 2018 Apr 31;20(2):77-84. 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

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April 2018
6 Reads

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

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November 2017
4 Reads

Torpedo maculopathy: A primary choroidal capillary abnormality?

Indian J Ophthalmol 2018 Feb;66(2):328-329

Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

A 26-year-old healthy male patient's fundus revealed findings consistent with torpedo maculopathy. Swept-source optical coherence tomography (OCT) showed a dome-shaped elevation of the retina at the level of ellipsoid zone. On OCT angiography segmented at the level of the choriocapillaris, a cluster of convoluted fine vessels was seen, and further, deeper scans of the larger choroidal vessels showed a slower flow. Read More

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February 2018
1 Read

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

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March 2018
6 Reads

Human genetics and molecular mechanisms of vein of Galen malformation.

J Neurosurg Pediatr 2018 Apr 19;21(4):367-374. 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

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April 2018
3 Reads

[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

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February 2018
2 Reads

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF.

Pigment Cell Melanoma Res 2018 May 29;31(3):437-441. Epub 2018 Jan 29.

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

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May 2018
4 Reads

De Novo Arteriovenous Malformation in a Pediatric Patient: Case Report and Review of the Literature.

World Neurosurg 2018 Mar 30;111:341-345. Epub 2017 Dec 30.

Lyerly Neurosurgery, Baptist Health, Jacksonville, Florida, USA. Electronic address:

Background: An arteriovenous malformation (AVM) consists of a pathologic arteriovenous 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

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March 2018
3 Reads

Combined approach to management of periocular arteriovenous malformation by interventional radiology and surgical excision.

Indian J Ophthalmol 2018 01;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

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January 2018
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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

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December 2017
8 Reads