3,064 results match your criteria Capillary Malformation


Venous thromboembolic and bleeding complications among pregnant women with Klippel-Trenaunay syndrome.

J Am Acad Dermatol 2019 Apr 13. Epub 2019 Apr 13.

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

Background: Klippel-Trenaunay Syndrome (KTS) is a vascular malformation overgrowth syndrome characterized by capillary malformation, venous malformation and limb overgrowth, +/- lymphatic malformation. Patients are at an increased risk of hemorrhage and venous thromboembolism (VTE). Consequently, women with this condition often are counseled to avoid pregnancy, but there is minimal data available on the relationship between pregnancy, VTE and bleeding risk. Read More

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http://dx.doi.org/10.1016/j.jaad.2019.04.018DOI Listing
April 2019
1 Read

Sparing of the nipple-areola complex by capillary malformations: Vascular variant of the Bork-Baykal phenomenon.

Pediatr Dermatol 2019 Apr 15. Epub 2019 Apr 15.

Department of Dermatology, University Children's Hospital Niño Jesús, Madrid, Spain.

The"Bork-Baykal phenomenon" refers to the sparing of the nipple-areola complex in large congenital melanocytic nevi involving the breast. So far, this finding has not been reported in vascular anomalies. We present four patients with an extensive capillary malformation (CM) involving the breast that was found to exhibit a similar sparing of the nipple and areola. Read More

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http://dx.doi.org/10.1111/pde.13844DOI Listing

An atypical case of Klippel-Trénaunay syndrome presenting with crossed-bilateral limb hypertrophy and postaxial polydactyly: a case report.

BMC Pediatr 2019 Apr 6;19(1):95. Epub 2019 Apr 6.

Division of Neonatology, Department of Pediatrics, University of Texas Medical Branch at Galveston, Galveston, Texas, USA.

Background: Klippel-Trénaunay syndrome (KTS) is a rare congenital condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony and/or soft tissue hypertrophy.

Case Presentation: Here we report the first case of a one-day-old male with KTS presenting with crossed-bilateral limb hypertrophy and post-axial polydactyly.

Conclusion: This case serves to highlight the variable presentation and multiple problems faced by patients with KTS and why multidisciplinary management is mandatory. Read More

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https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887
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http://dx.doi.org/10.1186/s12887-019-1480-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451243PMC
April 2019
3 Reads

Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient.

BMC Pediatr 2019 Apr 5;19(1):92. Epub 2019 Apr 5.

Neonatology Department, Miguel Servet Children's Hospital, Isabel la Católica Avenue 1-3, 50009, Zaragoza, Spain.

Background: Rasopathies are a group of genetic malformative syndromes including neurofibromatosis 1, Noonan, LEOPARD, Costello, cardio-facio-cutaneous, Legius, and capillary malformation-arteriovenous malformation syndromes.

Case Presentation: We present a female newborn that consulted at the emergency department with refusal to eat and sleepiness. A shortened femur, thickened nucal fold and suspect for agenesis of the corpus callosum were observed in prenatal ultrasound. Read More

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http://dx.doi.org/10.1186/s12887-019-1463-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449997PMC
April 2019
1 Read

YKL-40 can promote angiogenesis in sporadic cerebral cavernous malformation (CCM).

J Clin Neurosci 2019 Apr 1. Epub 2019 Apr 1.

Department of Neurosurgery, Huashan Hospital, Fudan University, 12 Wulumiqi Rd., Shanghai 200040, PR China. Electronic address:

The factors affecting the formation of sporadic CCMs remain unclear. A cDNA microarray was used to identify characteristic gene expression patterns in sporadic CCMs. Transcription level of YKL-40 was confirmed by reverse transcription-polymerase chain reaction (RT-PCR). Read More

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http://dx.doi.org/10.1016/j.jocn.2019.03.035DOI Listing
April 2019
1 Read

Resection of a pancreatic capillary lymphatic malformation through a partial pancreatectomy: a case report.

Surg Case Rep 2019 Mar 28;5(1):48. Epub 2019 Mar 28.

Department of Digestive and Transplantation Surgery, Tokyo Medical University Hachioji Medical Center, 1163 Tatemachi, Hachiojishi, Tokyo, 193-0998, Japan.

Background: Pancreatic vascular malformation causes epigastric pain, pancreatitis, portal vein hypertension, bleeding, and rupture. It is a rare disease, with most pancreatic vascular malformations being arteriovenous malformations (AVMs) and the other types of malformations being rare. We report a case of capillary lymphatic malformation (CLM) in the pancreatic uncinate process. Read More

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http://dx.doi.org/10.1186/s40792-019-0603-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439066PMC
March 2019
1 Read

Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series.

Clin Dysmorphol 2019 Mar 26. Epub 2019 Mar 26.

Department of Pediatrics, PGIMER, Chandigarh, India.

Disorders associated with multiple vertebral segmentation defects may have additional rib anomalies in form of absence or hypoplastic ribs, fanning of ribs, etc. Spondylocostal dysostosis is genetic disorder with abnormal vertebral segmentation and rib anomalies. Diagnosis is often delayed because of non-familiarity with the characteristic features. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000269DOI Listing

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.

Am J Med Genet A 2019 Mar 28. Epub 2019 Mar 28.

Department of Pediatrics, Stanford School of Medicine, Stanford, California.

Phacomatosis pigmentovascularis (PPV) comprises a family of rare conditions that feature vascular abnormalities and melanocytic lesions that can be solely cutaneous or multisystem in nature. Recently published work has demonstrated that both vascular and melanocytic abnormalities in PPV of the cesioflammea and cesiomarmorata subtypes can result from identical somatic mosaic activating mutations in the genes GNAQ and GNA11. Here, we present three new cases of PPV with features of the cesioflammea and/or cesiomarmorata subtypes and mosaic mutations in GNAQ or GNA11. Read More

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http://dx.doi.org/10.1002/ajmg.a.61134DOI Listing
March 2019
2.159 Impact Factor

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

Am J Med Genet A 2019 Mar 25. Epub 2019 Mar 25.

Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom.

The neurofibromatoses, which include neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis, are a group of syndromes characterized by tumor growth in the nervous system. The RASopathies are a group of syndromes caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. The RASopathies include NF1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation arterio-venous malformation syndrome, and SYNGAP1 autism. Read More

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http://dx.doi.org/10.1002/ajmg.a.61125DOI Listing
March 2019
1 Read
2.159 Impact Factor

KRAS G12D or G12V Mutation in Human Brain Arteriovenous Malformations.

World Neurosurg 2019 Mar 19. Epub 2019 Mar 19.

Department of Neurosurgery, Graduate School of Biomedical Sciences, Tokushima University, Tokushima City, Tokushima, Japan. Electronic address:

Background: Brain arteriovenous malformations (BAVMs) are vascular malformations composed of tangles of abnormally developed vasculature without capillaries. Abnormal shunting of arteries and veins is formed, resulting in high-pressure vascular channels, which potentially lead to rupture. BAVMs are generally considered a congenital disorder. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.03.105DOI Listing

A somatic missense mutation in GNAQ causes capillary malformation.

Curr Opin Hematol 2019 May;26(3):179-184

Department of Surgery, Vascular Biology Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Purpose Of Review: Capillary malformations, the most common type of vascular malformation, are caused by a somatic mosaic mutation in GNAQ, which encodes the Gαq subunit of heterotrimeric G-proteins. How the single amino acid change - predicted to activate Gαq - causes capillary malformations is not known but recent advances are helping to unravel the mechanisms.

Recent Findings: The GNAQ R183Q mutation is present not only in endothelial cells isolated from skin and brain capillary malformations but also in brain tissue underlying the capillary malformation, raising questions about the origin of capillary malformation-causing cells. Read More

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http://dx.doi.org/10.1097/MOH.0000000000000500DOI Listing

Comparison of Argon Plasma Coagulation and Injection Therapy with Adrenalin and Polidocanol in the Management of Bleeding Angiodysplasia in Upper Gastrointestinal Tract.

Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2018 Dec;39(2-3):63-68

University Children's Hospital, Medical Faculty Skopje, Republic of Macedonia.

Introduction: The term angiodysplasia (AD) refers to acquired malformation of the blood vessels (communications between veins and capillaries), frequently found within the gastrointestinal mucosa and submucosa. AD of stomach and duodenum are cause of upper gastrointestinal bleeding in 4%-7% of patients. The means of treatment are usually endoscopic, including argon plasma coagulation (APC), electrocoagulation, mechanical hemostasis by clippsing, laser photo-coagulation and injection therapy. Read More

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https://content.sciendo.com/view/journals/prilozi/39/2-3/art
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http://dx.doi.org/10.2478/prilozi-2018-0043DOI Listing
December 2018
3 Reads

Predictive value of dermoscopy for the treatment of port-wine stains with large spot 532 nm laser.

Lasers Surg Med 2019 Mar 12. Epub 2019 Mar 12.

Klinika Ambroziak, Warsaw, Poland.

Objective: We wanted to evaluate dermoscopy as a tool to predict the efficacy of port-wine stain (PWS) laser treatment.

Study Design And Methods: Large spot 532 nm laser was used for the treatment of 67 PWS. Efficacy was assessed with an objective 3D digital imaging analysis. Read More

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http://dx.doi.org/10.1002/lsm.23083DOI Listing
March 2019
1 Read

Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.

Pediatr Neurol 2018 Dec 20. Epub 2018 Dec 20.

Department of Neurology, Kennedy Krieger Institute, Baltimore, Maryland; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland.

Background: Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary venous malformations in the brain presenting with various neurological, ophthalmic, and cognitive symptoms of variable severity. This clinical variability makes accurate prognosis difficult. We hypothesized that the greater extent of physical factors (extent of skin, eye, and brain involvement), presence of possible genetic factors (gender and family history), and age of seizure onset may be associated with greater symptom severity and need for surgery in patients with SWS. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183069
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.12.002DOI Listing
December 2018
4 Reads

Parkes Weber syndrome presenting as Stewart-Bluefarb acroangiodermatitis.

BMJ Case Rep 2019 Mar 8;12(3). Epub 2019 Mar 8.

Department of General Surgery, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India.

Parkes Weber syndrome (PWS) is a rare disorder characterised by arteriovenous (AV) fistula, along with capillary, lymphatic, venous malformations and limb hypertrophy. Stewart-Bluefarb syndrome is a variant of acroangiodermatitis, which is associated with congenital AV malformation/fistulas. It usually begins early in life, unilaterally over lower extremities presenting as violaceous to dusky coloured macules, papules or plaques with tendency to ulcerate. Read More

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http://dx.doi.org/10.1136/bcr-2018-227793DOI Listing
March 2019
3 Reads

Pulmonary arteriovenous malformation in a neonate: a condition commonly misdiagnosed.

Sudan J Paediatr 2018 ;18(2):56-60

Cardiac Sciences Department, King Abdulaziz Cardiac Center, National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.

Pulmonary arteriovenous malformations (PAVMs) are congenital defects in the form of an anomalous bridging between a pulmonary arterial and venous system that sidesteps the normal pulmonary capillary. This anomaly is usually associated with hereditary hemorrhagic telangiectasia, leftover small group are sporadic cases but may occur as an isolated anomaly or as multiple lesions. Rarely, such abnormalities can be acquired. Read More

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http://dx.doi.org/10.24911/SJP.106-1528143670DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378582PMC
January 2018

Urinary proteome signature of Renal Cysts and Diabetes syndrome in children.

Sci Rep 2019 Feb 18;9(1):2225. Epub 2019 Feb 18.

Mosaiques Diagnostics GmbH, Hannover, Germany.

Renal Cysts and Diabetes Syndrome (RCAD) is an autosomal dominant disorder caused by mutations in the HNF1B gene encoding for the transcriptional factor hepatocyte nuclear factor-1B. RCAD is characterized as a multi-organ disease, with a broad spectrum of symptoms including kidney abnormalities (renal cysts, renal hypodysplasia, single kidney, horseshoe kidneys, hydronephrosis), early-onset diabetes mellitus, abnormal liver function, pancreatic hypoplasia and genital tract malformations. In the present study, using capillary electrophoresis coupled to mass spectrometry (CE-MS), we investigated the urinary proteome of a pediatric cohort of RCAD patients and different controls to identify peptide biomarkers and obtain further insights into the pathophysiology of this disorder. Read More

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http://dx.doi.org/10.1038/s41598-019-38713-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379363PMC
February 2019
1 Read
5.078 Impact Factor

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Genet Med 2019 Feb 14. Epub 2019 Feb 14.

Department of Pathology, University of Utah, Salt Lake City, UT, USA.

Purpose: EPHB4 variants were recently reported to cause capillary malformation-arteriovenous malformation 2 (CM-AVM2). CM-AVM2 mimics RASA1-related CM-AVM1 and hereditary hemorrhagic telangiectasia (HHT), as clinical features include capillary malformations (CMs), telangiectasia, and arteriovenous malformations (AVMs). Epistaxis, another clinical feature that overlaps with HHT, was reported in several cases. Read More

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http://www.nature.com/articles/s41436-019-0443-z
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http://dx.doi.org/10.1038/s41436-019-0443-zDOI Listing
February 2019
16 Reads

Anatomical Evaluation for Successful Dye Laser Treatment of Port Wine Stain in Vietnamese Patients.

Open Access Maced J Med Sci 2019 Jan 23;7(2):208-210. Epub 2019 Jan 23.

University of Rome G. Marconi, Rome, Italy.

Aim: To assess the efficacy in the treatment of port wine stain in the head and neck by using (Vbeam perfecta®).

Methods: Forty-two port wine stain patients were recruited at the National Hospital of Dermatology and Venereology, Hanoi, Vietnam.

Results: We reported an excellent response (43. Read More

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http://dx.doi.org/10.3889/oamjms.2019.052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364725PMC
January 2019

[Arterial sinus pericranii. First case report].

Cir Pediatr 2019 Jan 21;32(1):49-52. Epub 2019 Jan 21.

Servicio de Cirugía Pediátrica. Hospital Universitario La Paz. Madrid.

Introduction: Sinus pericranii (SP) is a rare vascular anomaly consisting in an abnormal intradiploic communication between intra and extra cranial venous systems. It usually presents as a congenital soft mass in the cranial midline with progressive growth, which enlarges significantly with Valsalva maneuver. A similar congenital vascular anomaly involving intra and extra cranial arterial systems has not been previously described in the medical literature. Read More

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January 2019

Cerebral arteriovenous malformation venous stenosis is associated with hemodynamic changes at the draining vein-venous sinus junction.

Med Hypotheses 2019 Feb 7;123:86-88. Epub 2019 Jan 7.

Department of Neurosurgery, University of Illinois at Chicago, United States. Electronic address:

Cerebral arteriovenous malformations (AVMs) are an uncommon vascular anomaly that carry the risk of rupture and hemorrhage. Several factors have been implicated in the propensity of an AVM to bleed. One such factor is stenosis of AVM draining veins, as impairment of the AVM venous drainage system is associated with increased risk of intracranial hemorrhage. Read More

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http://dx.doi.org/10.1016/j.mehy.2019.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370035PMC
February 2019
1 Read

Activin Receptor-Like Kinase 1 Combined With VEGF-A Affects Migration and Proliferation of Endothelial Cells From Sporadic Human Cerebral AVMs.

Front Cell Neurosci 2018 9;12:525. Epub 2019 Jan 9.

Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

Heterozygous loss of activin receptor-like kinase 1 (Alk1) can lead to hereditary hemorrhagic telangiectasia (HHT), which is a kind of vascular disease characterized by direct connections between arteries and veins with the lacking of capillaries, and develops into arteriovenous malformations (AVMs) in later stage. However, the changes of Alk1 in human sporadic cerebral AVMs (cAVMs) remain unknown. In the present study, we used endothelial cells (ECs) derived from human cAVMs (cAVM-ECs) specimens, to explore the characteristics of cAVM-ECs and the relationship between Alk1 and human sporadic cAVMs. Read More

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http://dx.doi.org/10.3389/fncel.2018.00525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333867PMC
January 2019
4 Reads
4.289 Impact Factor

Verrucous Hemangioma.

Eplasty 2019 7;19:ic1. Epub 2019 Jan 7.

Department of Plastic Surgery, Morsani College of Medicine, Tampa, Fla.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328935PMC
January 2019
3 Reads

Pyogenic granuloma over the venous component of a mixed vascular malformation.

J Cutan Pathol 2019 Jan 22. Epub 2019 Jan 22.

Department of Pathology, Complejo Hospitalario Universitario A Coruña, A Coruña, Spain.

A 52-year-old man presented with a rapidly growing red tumor on the central neckline. It had appeared over a congenital flat and pinkish vascular lesion that involved the shoulder and the upper anterior area of his chest. Intermingled with the pinkish stain, there were also some blue nodules several millimeters in diameter. Read More

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http://doi.wiley.com/10.1111/cup.13429
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http://dx.doi.org/10.1111/cup.13429DOI Listing
January 2019
6 Reads

Congenital Large Cutaneous Hemangioma with Arteriovenous and Arterioarterial Malformations: A Novel Association.

Fetal Pediatr Pathol 2019 Feb 19;38(1):85-90. Epub 2019 Jan 19.

c Department of Gyneco-Obstetrics, Hospital Habib Bougatfa, Faculty of Medicine of Tunis, University of Tunis El Manar , Tunis , Tunisia.

Background: Congenital cutaneous hemangioma is a benign vascular lesion that is a leading cause of severe hemodynamic compromise in a fetus when it is of significant size and especially in association with arteriovenous malformation.

Case Report: A large cutaneous hemangioma involving the right arm of a 32-week-old male fetus was complicated by fetal hypotrophy, hydrops fetalis and neonatal death. Axillary arteriovenous fistulas and bilateral arterial carotid-subclavian anastomosis were demonstrated at autopsy. Read More

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http://dx.doi.org/10.1080/15513815.2018.1547337DOI Listing
February 2019
3 Reads

Sudden death from an epileptic seizure due to capillary telangiectasias in the hippocampus.

Forensic Sci Med Pathol 2019 Jan 16. Epub 2019 Jan 16.

Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, No. 13 Hangkong Road, Wuhan, 430030, People's Republic of China.

Cerebral capillary telangiectasia (CCT) is a type of vascular malformation that is incidentally encountered in clinical practice. Diseased vessels are small and usually clinically benign over the course of a patient's life. Although most CCT patients are asymptomatic, the situation becomes complicated when trauma is encountered. Read More

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http://link.springer.com/10.1007/s12024-018-0075-7
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http://dx.doi.org/10.1007/s12024-018-0075-7DOI Listing
January 2019
9 Reads

Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples.

J Chromatogr B Analyt Technol Biomed Life Sci 2019 Feb 7;1106-1107:64-70. Epub 2019 Jan 7.

University Children's Hospital Münster, Albert Schweitzer-Campus 1, Gebäude A13, 48149 Münster, Germany. Electronic address:

Background: Congenital disorders of glycosylation (CDG) are a growing group of inherited diseases causing manifold symptoms. Routine diagnostic procedures are high performance liquid chromatography (HPLC) or isoelectric focusing (IEF) of serum transferrin.

Methods: We introduce a modified method to screen for glycosylation abnormalities from dried blood spot (DBS) samples based on isoelectric focusing. Read More

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http://dx.doi.org/10.1016/j.jchromb.2019.01.004DOI Listing
February 2019
4 Reads

Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation.

Clin Genet 2019 Apr 4;95(4):516-519. Epub 2019 Feb 4.

Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.

Capillary malformation-arteriovenous malformation (CM-AVM) is caused by germline RASA1 and EPHB4 alterations. RASA1 intralesional second hits have also been reported. Here we report RASA1 constitutional mosaicism, defined here as the presence of a mosaic variant in all cell types of an individual, in two patients with CM-AVM. Read More

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http://dx.doi.org/10.1111/cge.13499DOI Listing
April 2019
6 Reads

Kyphoscoliosis with Klippel-Trenaunay syndrome: a case report and literature review.

BMC Musculoskelet Disord 2019 Jan 5;20(1):10. Epub 2019 Jan 5.

Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, 100730, China.

Background: Klippel-Trenaunay syndrome (KTS) is a rare congenital syndrome characterized by the triad of venous varicosities, capillary malformations and limb hypertrophy. However, KTS may rarely occur in combination with kyphoscoliosis.

Case Presentation: We presented an 18-year-old female with KTS and kyphoscoliosis. Read More

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https://bmcmusculoskeletdisord.biomedcentral.com/articles/10
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http://dx.doi.org/10.1186/s12891-018-2393-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320630PMC
January 2019
17 Reads

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

Neuron 2019 Feb 18;101(3):429-443.e4. Epub 2018 Dec 18.

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA; Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA; Department of Cellular and Molecular Physiology, Yale School of Medicine, New Haven, CT, USA. Electronic address:

Normal vascular development includes the formation and specification of arteries, veins, and intervening capillaries. Vein of Galen malformations (VOGMs) are among the most common and severe neonatal brain arterio-venous malformations, shunting arterial blood into the brain's deep venous system through aberrant direct connections. Exome sequencing of 55 VOGM probands, including 52 parent-offspring trios, revealed enrichment of rare damaging de novo mutations in chromatin modifier genes that play essential roles in brain and vascular development. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08966273183105
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http://dx.doi.org/10.1016/j.neuron.2018.11.041DOI Listing
February 2019
30 Reads

Alagille syndrome: a case report.

Ann Biol Clin (Paris) 2018 Dec;76(6):675-680

Département de biochimie et génétique, CHU Angers, France.

We report the case of an infant hospitalized for neonatal anoxic ischemia in whom the diagnosis of Alagille syndrome (SAG ; MIM # 118450) was suspected in the presence of major cholestasis, cardiac malformations, suggestive facial dysmorphia, and vertebral and ocular abnormalities. This diagnosis was later confirmed by the detection of a heterozygous pathogenic variant in the gene JAG1, i.e. Read More

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http://dx.doi.org/10.1684/abc.2018.1399DOI Listing
December 2018

[New insight of craniofacial and oral findings of the RASopathies].

Zhonghua Kou Qiang Yi Xue Za Zhi 2018 Dec;53(12):858-861

Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University & State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases, Chengdu 610041, China.

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), NS with multiple lentigines (NSML), neu-rofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). These disorders affect multiple systems, including the craniofacial complex. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1002-0098.2018.12.014DOI Listing
December 2018
3 Reads

Congenital pial AVF along the falx cerebri with complete agenesis of the corpus callosum and bilateral parasagittal pachygyria-polymicrogyria secondary to chronic ischemia.

Childs Nerv Syst 2019 Mar 11;35(3):569-574. Epub 2018 Dec 11.

Department of Diagnostic Imaging, National University Health System, 1E Kent Ridge Rd, Singapore, 119228, Singapore.

Objective: Pial arteriovenous fistula (AVF) is an extremely rare entity due to direct arterial connection with the venous plexus without an intervening capillary network. The objective of this article is to describe a unique case of congenital pial AVF along the interhemispheric falx with complete callosal agenesis and malformation of cortical development within the bilateral anterior cerebral artery territories. We also demonstrated the distinctive feature of temporal stability of the extensive intracranial abnormalities without active intervention. Read More

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http://dx.doi.org/10.1007/s00381-018-4019-zDOI Listing
March 2019
2 Reads

Liver histopathology in patients with hepatic masses and the Abernethy malformation.

J Pediatr Surg 2019 Feb 7;54(2):266-271. Epub 2018 Nov 7.

Division of Transplant Surgery, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University, Chicago, IL, USA. Electronic address:

Background/purpose: The Abernethy malformation (AM) is a congenital venous malformation in which the splanchnic venous return bypasses the liver and drains directly into the systemic circulation. This deprives the liver of hepatotrophic growth factors and allows metabolic products of digestion to enter the systemic veins without the benefit of passing through the liver. The histologic features of liver biopsies in children with an AM were reviewed. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2018.10.083DOI Listing
February 2019
1 Read

Multiple arteriovenous malformations caused by RASA1 gene mutation presenting during pregnancy - a case report and review of the literature.

Vasa 2018 12 10:1-5. Epub 2018 Dec 10.

1 Division of Angiology and Hemostasis, University Hospitals and Faculty of Medicine, Geneva, Switzerland.

Pregnancy can influence the development and progression of congenital arteriovenous malformations (AVM) and thus lead to life-threatening complications for the mother and fetus like high output cardiac failure and premature delivery. The simultaneous presence of a capillary malformation and AVM strongly suggests a RASA1 related disorder. Keywords: Arteriovenous malformations, capillary malformation-arteriovenous malformation, capillaries/abnormalities, port-wine stain, pregnancy, RASA1 protein. Read More

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http://dx.doi.org/10.1024/0301-1526/a000770DOI Listing
December 2018
8 Reads

A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.

Cell J 2019 Apr 18;21(1):70-77. Epub 2018 Nov 18.

Department of Pediatrics Cardiology, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic Address:

Objective: Tricuspid atresia (TA) is a rare life-threatening form of congenital heart defect (CHD). The genetic mechanisms underlying TA are not clearly understood. According to previous studies, the endocardial cushioning event, as the primary sign of cardiac valvulogenesis, is governed by several overlapping signaling pathways including Ras/ ERK pathway. Read More

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http://dx.doi.org/10.22074/cellj.2019.5734DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275424PMC
April 2019
4 Reads

Episcleral racemose hemangioma.

J AAPOS 2018 Nov 20. Epub 2018 Nov 20.

Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address:

Racemose hemangioma is a rare, benign vascular malformation. In the episclera, it appears as dilated, tortuous blood vessels that pass from the fornix over the globe surface to the limbal area, without capillary architecture, and then loop backward into the fornix. Fluorescein angiogram reveals the vascular malformation with rapid flow and confirms the episcleral vessels to be large in caliber and with a curvilinear, twisted configuration. Read More

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http://dx.doi.org/10.1016/j.jaapos.2018.10.007DOI Listing
November 2018
17 Reads

Role Of Radiosurgery In Arteriovenous Malformations.

J Ayub Med Coll Abbottabad 2018 Jul-Sep;30(3):449-457

King Edward Medical University, Lahore-Pakistan.

Background: Intracranial arteriovenous malformations (AVMs) consist of an abnormal nidus of blood vessels that shunt blood directly from an artery to a vein and thereby bypass an intervening capillary bed. AVMs may be found as an incidental finding. They may be associated with intracranial haemorrhage, seizures, headaches or neurological deficits. Read More

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January 2019
15 Reads

Swept-Source OCT Angiography of the Anomalous Foveal Avascular Zone.

Ophthalmic Surg Lasers Imaging Retina 2018 11;49(11):852-858

Background And Objective: To gain insight into clinical presentations associated with anomalous foveal avascular zone (FAZ) architecture and foveal pit morphology.

Patients And Methods: Twenty-two eyes with anomalous (vascularized) FAZs were identified from 14 patients using optical coherence tomography angiography (OCTA). The FAZ was evaluated in three vascular layers of the retina: the superficial capillary plexus (SCP), the deep capillary plexus (DCP), and the degree of foveal pit hypoplasia was graded. Read More

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http://dx.doi.org/10.3928/23258160-20181101-06DOI Listing
November 2018
3 Reads

STAM-binding protein regulates melanoma metastasis through SLUG stabilization.

Biochem Biophys Res Commun 2018 Dec 16;507(1-4):484-488. Epub 2018 Nov 16.

Division of Pathogenic Biochemistry, Institute of Natural Medicine, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan.

STAM-binding protein, STAMBP, is a JAMM-family deubiquitinating enzyme containing the microtubule-interacting/transport domain and STAM-binding domain. Although the biological importance of STAMBP in development has been recognized because the microcephaly-capillary malformation syndrome in human is caused by its somatic mutations, the role of STAMBP in cancer has not yet been determined. In this study, we demonstrate that STAMBP is a key molecule for regulating melanoma migration and invasion, but not survival, by knocking down STAMBP in vitro. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0006291X183248
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http://dx.doi.org/10.1016/j.bbrc.2018.11.068DOI Listing
December 2018
26 Reads

Vascular malformation in a bicuspid aortic valve.

Cardiovasc Pathol 2019 Jan - Feb;38:39-41. Epub 2018 Oct 24.

Department of Pathology, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, 20 rue Leblanc, 75015-, Paris, France.

We report here a case of capillary vascular malformation developed in a bicuspid aortic valve incidentally detected during valve replacement in a 67-year-old male patient. The International Society for the Study of Vascular Anomalies (ISSVA) classification was used to classify this vascular lesion instead of using the term hemangioma. The differential diagnosis and the literature are reviewed. Read More

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https://www.cardiovascularpathology.com/article/S1054-8807(1
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https://linkinghub.elsevier.com/retrieve/pii/S10548807183029
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http://dx.doi.org/10.1016/j.carpath.2018.10.006DOI Listing
March 2019
16 Reads

Association of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma.

JAMA Ophthalmol 2019 Jan;137(1):91-95

Vascular Biology Program, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.

Importance: Choroidal hemangiomas are defined by a thickened choroid owing to vessel overgrowth, which may increase the intraocular pressure and lead to glaucoma. Choroidal hemangioma and glaucoma often co-occur in patients with Sturge-Weber syndrome, a rare neurocutaneous disorder characterized by capillary malformations.

Objective: To determine whether the mutation found in most capillary malformations, GNAQ R183Q (c. Read More

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https://jamanetwork.com/journals/jamaophthalmology/fullartic
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http://dx.doi.org/10.1001/jamaophthalmol.2018.5141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382586PMC
January 2019
8 Reads

Associations of cytokine concentrations in aqueous humour with retinal vascular abnormalities and exudation in Coats' disease.

Acta Ophthalmol 2019 May 9;97(3):319-324. Epub 2018 Nov 9.

Department of Ophthalmology at Eye and ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China.

Purpose: To investigate the associations of cytokine concentrations in aqueous humour with the severity of retinal vascular abnormalities, exudation and fibrosis in patients with Coats' disease.

Methods: Aqueous humour samples were collected in 23 paediatric patients (23 eyes) with Coats' disease and six age-matched control patients (six eyes) with congenital cataract in this cross-sectional, case-control study. Through Cytometric Bead Array technology, six angiogenic, inflammatory and fibrotic cytokines were measured for their concentrations in aqueous humour. Read More

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http://dx.doi.org/10.1111/aos.13971DOI Listing
May 2019
21 Reads

Eosinophilic inflammation in spontaneous coronary artery dissection: A potential therapeutic target?

Med Hypotheses 2018 Dec 24;121:91-94. Epub 2018 Sep 24.

Division of Cardiovascular Medicine, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, United States. Electronic address:

Spontaneous coronary artery dissection (SCAD), defined as non-traumatic, non-iatrogenic dissociation of coronary vessel wall resulting from intimal disruption or intramural hemorrhage, represents an important cause of sudden death and myocardial infarction among young or middle-aged women without conventional risk factors for atherosclerosis. On histopathological examination, SCAD is featured by prominent eosinophilic infiltration of the adventitia or periadventitial layer of coronary artery. It has been estimated that approximately 15-30% of SCAD patients experience recurrent episodes of dissection despite medical therapy. Read More

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http://dx.doi.org/10.1016/j.mehy.2018.09.039DOI Listing
December 2018
8 Reads
1.152 Impact Factor

Pulmonary arteriovenous malformations.

Int J Cardiovasc Imaging 2018 Nov 1. Epub 2018 Nov 1.

Division of Interventional Radiology, Department of Radiology, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. Although asymptomatic in ~ 50% individuals, it can present with the dreaded complications of stroke or intracranial abscess in high-risk individuals including pregnant women, if untreated. The mainstay of treatment is now endovascular embolization of the feeding artery which can alleviate the symptoms and prevent these complications. Read More

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http://dx.doi.org/10.1007/s10554-018-1479-xDOI Listing
November 2018
3 Reads

[Acquired facial angiokeratoma].

Pan Afr Med J 2018 19;30:140. Epub 2018 Jun 19.

Service de Dermatologie-Vénérologie, Hôpital Militaire d'Instruction Mohammed V, Rabat, Maroc.

Angiokeratomas are vascular dilations (telangiectasic papules) with keratotic surface caused by capillary dilation in the dermal papilla due to venous hyperpression, vascular malformation or a capillary fragility. They most commonly are benign and just unsightly and they may sometimes reveal a dreaded overload disease known as Fabry Disease. Here we report the case of a 56-year old patient, with no notable medical history, presenting with nontraumatic, nonpruritic, bleeding on contact, grouped cluster erythematous papules without extracutaneous manifestations on the left malar region, that had occurred 4 months before. Read More

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http://www.panafrican-med-journal.com/content/article/30/140
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http://dx.doi.org/10.11604/pamj.2018.30.140.14943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201602PMC
November 2018
10 Reads

RASA-1 somatic "second hit" mutation in capillary malformation-arteriovenous malformation.

J Dermatol 2018 Dec 27;45(12):1478-1480. Epub 2018 Oct 27.

Department of Plastic and Reconstructive Surgery, Shanghai Ninth Peoples Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

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http://doi.wiley.com/10.1111/1346-8138.14676
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http://dx.doi.org/10.1111/1346-8138.14676DOI Listing
December 2018
21 Reads

Fluid shear stress sensing in vascular homeostasis and remodeling: Towards the development of innovative pharmacological approaches to treat vascular dysfunction.

Authors:
Nicolas Baeyens

Biochem Pharmacol 2018 Dec 24;158:185-191. Epub 2018 Oct 24.

Laboratoire de physiologie et pharmacologie, Faculté de Médecine, Université libre de Bruxelles, ULB, Belgium. Electronic address:

Blood circulation, facilitating gas exchange and nutrient transportation, is a quintessential feature of life in vertebrates. Any disruption to blood flow, may it be by blockade or traumatic rupture, irrevocably leads to tissue infarction or death. Therefore, it is not surprising that hemostasis and vascular adaptation measures have been evolutionarily selected to mitigate the adverse consequences of altered circulation. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00062952183045
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http://dx.doi.org/10.1016/j.bcp.2018.10.023DOI Listing
December 2018
7 Reads

Histopathology of livers in patients with congenital portosystemic shunts (Abernethy malformation): a case series of 22 patients.

Virchows Arch 2019 Jan 24;474(1):47-57. Epub 2018 Oct 24.

King's College Hospital, Institute of Liver Studies, London, UK.

Congenital portosystemic shunt (CPSS) is a congenital anomaly resulting in partial or complete diversion of the portal blood into the systemic circulation. The literature on the histological changes in livers of patients with CPSS is limited. Liver histology of 22 consecutive patients managed in our institution between 2001 and 2016 was reviewed. Read More

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http://dx.doi.org/10.1007/s00428-018-2464-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323085PMC
January 2019
3 Reads

Morning glory disc anomaly and facial hemangiomas in a girl with moyamoya syndrome.

Indian J Ophthalmol 2018 Nov;66(11):1644-1646

Department of Ophthalmology, Little Flower Hospital and Research Centre, Angamaly, Kerala, India.

Moyamoya disease (MMD) is a chronic progressive, occlusive cerebrovascular disease in the circle of Willis and the feeding arteries. Morning glory disc anomaly (MGDA) is characterized by an abnormal excavated optic disc with radial emergence of blood vessels from the rim of the disc. We describe a case of moyamoya syndrome (MMS), a rare entity among Indian ethnicity, associated with MGDA and regressed facial capillary hemangiomas, which are relatively less reported presentations of MMD. Read More

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http://www.ijo.in/text.asp?2018/66/11/1644/244066
Publisher Site
http://dx.doi.org/10.4103/ijo.IJO_538_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6213674PMC
November 2018
7 Reads