151 results match your criteria: "Vascular Birthmark Center; Alder Hey Children's Hospital; Liverpool[Affiliation]"

Orbital Intraosseous Abscess After Lateral Bony Orbital Decompression.

Ophthalmic Plast Reconstr Surg

December 2024

Oculoplastic and Orbital Surgery Service, Wills Eye Hospital, Philadelphia, Pennsylvania.

A 66-year-old woman status post bony lateral orbital decompression for thyroid eye disease presented with recurrent episodes of left lateral canthal edema and erythema, despite repeated courses of oral antibiotics, titanium hardware removal, and repeated exploratory orbitotomies with debridement and curettage. MRI later revealed an intraosseous fluid collection in the left greater sphenoid wing. Another exploratory orbitotomy was performed and an intraosseous abscess was identified.

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Introduction: The 595-nm wavelength pulsed dye laser (PDL) is well-established in the treatment of vascular lesions. In June 2023, it received FDA clearance for the treatment of port-wine birthmarks (PWB) and infantile hemangiomas (IH) in the pediatric population.

Objective: Review the evidence regarding the efficacy, safety, and implications of using PDL for management of pediatric PWB and IH.

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Port-wine birthmarks (PWB) are common vascular malformations in infants. Despite various laser and light-based treatments, comparative data on their effectiveness is limited. This study compares different treatments for PWB using a systematic review and network meta-analysis (NMA).

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Background: Next-generation sequencing has greatly increased our understanding of vascular birthmarks. Many port-wine birthmarks are due to somatic mutations in GNAQ/GNA11 exon 183, but other genomic causes have been identified. Most congenital hemangiomas are due to somatic mutations in GNAQ/GNA11 at exon 209.

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Article Synopsis
  • Infantile haemangioma (IH) is the most common type of vascular tumor in infants, characterized by rapid growth followed by a slow regression process over several years; while many resolve on their own, up to 10% can cause disfigurement and may need medical attention.
  • Recent studies have uncovered the biological mechanisms behind IH, focusing on processes like angiogenesis and vasculogenesis, and have identified key gene expression pathways involved, such as those related to vascular growth factors and hormone receptors.
  • The review aims to dissect the molecular processes of IH during its different growth phases by analyzing gene expression, targeted proteins, and signaling pathways, contributing to a greater understanding of vascular development and tissue remodeling
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Objectives: To evaluate the safety and clinical outcome of bleomycin electrosclerotherapy (BEST) for treating extracranial slow-flow malformations.

Methods: In this retrospective investigation of a multicenter cohort presenting symptomatic slow-flow malformations, patient records were analyzed with respect to procedural details and complications. A treatment-specific, patient-reported questionnaire was additionally evaluated, obtained 3-12 months after the last treatment, to assess the subjective outcomes, including mobility, aesthetic aspects, and pain, as well as the occurrence of postprocedural skin hyperpigmentation.

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Capillary malformations.

J Clin Invest

April 2024

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

Capillary malformation (CM), or port wine birthmark, is a cutaneous congenital vascular anomaly that occurs in 0.1%-2% of newborns. Patients with a CM localized on the forehead have an increased risk of developing a neurocutaneous disorder called encephalotrigeminal angiomatosis or Sturge-Weber syndrome (SWS), with complications including seizure, developmental delay, glaucoma, and vision loss.

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Newborn Skin: Part II. Birthmarks.

Am Fam Physician

March 2024

University of Pittsburgh Medical Center, Lititz Family Medicine Residency Program, Lititz, Pennsylvania.

Article Synopsis
  • Birthmarks in newborns are categorized into three main types: vascular (like hemangiomas), melanocytic (pigmented moles), and signs of potential nervous system issues.
  • Benign conditions like nevus simplex and dermal melanocytosis usually don't require treatment, while more concerning types, such as nevus flammeus and infantile hemangiomas, may need medical intervention depending on their severity.
  • Larger or multiple congenital melanocytic nevi should be monitored by specialists to assess melanoma risk, and skin markers linked to spinal issues necessitate imaging for further evaluation.
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Background: Port wine birthmark (PWB) is a congenital vascular malformation of the skin. Pulsed dye laser (PDL) is the "gold standard" for the treatment of PWB globally. Hematoporphyrin monomethyl ether (HMME or hemoporfin)-mediated photodynamic therapy (HMME-PDT) has emerged as the first choice for PWB treatment, particularly for young children, in many major hospitals in China during the past several decades.

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Article Synopsis
  • Recent advancements in laser and energy-based technologies have significantly expanded treatment options for dermatological and cosmetic issues around the eyes.
  • Current treatments include addressing pigmented lesions like solar lentigines and nevus of Ota, vascular concerns such as port-wine birthmarks and superficial telangiectasias, and benign tumors like xanthelasma.
  • Additional applications include cosmetic rejuvenation, treatment of dark circles, removal of eyebrow and eyeliner tattoos, and solutions for chronic dry eyes.
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Background: Patients frequently seek laser treatment for vascular conditions. More recently, a novel 532 and 1,064 nm laser was developed to offer greater flexibility.

Objective: A prospective clinical trial evaluated the safety and efficacy of a novel, variable-sequenced, long-pulsed, 532 and 1,064 nm laser with cryogen spray cooling (DermaV, Lutronic, South Korea).

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Vascular Lesions.

Facial Plast Surg Clin North Am

February 2024

The Williams Center for Plastic Surgery, 1072 Troy-Schenectady Road, Latham, NY 12110, USA.

Vascular lesions impact up to 5% of children and range in clinical impact from minor cutaneous aberrations to large masses impacting both form and function. Vascular lesions may be characterized as tumors or malformations. Establishing a clear diagnosis is imperative to understanding the natural history of a vascular lesion and developing a treatment plan.

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Updates on Lasers in Dermatology.

Dermatol Clin

January 2024

Wellman Center for Photomedicine, Massachusetts General Hospital, 15 Parkman Street, Wang Ambulatory Care Center - Suite 435, Boston, MA 02114, USA; Connecticut Skin Institute, Stamford, CT, USA.

The introduction of selective photothermolysis by Drs. John Parrish and Rox Anderson in 1983 revolutionized how lasers are used in dermatology. The theory allowed for lasers to be used in a variety of applications both safe and effectively, and the number of applications has only expanded with time.

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Port Wine Birthmarks (PWBs) are a congenital vascular malformation on the skin, occurring in 1-3 per 1000 live births. We have recently generated PWB-derived induced pluripotent stem cells (iPSCs) as clinically relevant disease models. The metabolites associated with the pathological phenotypes of PWB-derived iPSCs are unknown, and so we aim to explore them in this study.

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Superficial erythematous cutaneous vascular malformations are assumed to be blood vascular in origin, but cutaneous lymphatic malformations can contain blood and appear red. Management may be different and so an accurate diagnosis is important. Cutaneous malformations were investigated through 2D histology and 3D whole-mount histology.

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Lesional induced pluripotent stem cell-derived endothelial cells can resemble pathological vascular phenotypes of port-wine birthmark (PWB). Our data demonstrate that multiple pathways, including Hippo and Wnt, NFκB, TNF, MAPK and cholesterol metabolism, are dysregulated. These data suggest new therapeutics can be developed to target such dysregulated pathways in the treatment of PWB.

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Background: Port wine birthmark (PWB) is a congenital vascular malformation resulting from developmentally defective endothelial cells (ECs). Developing clinically relevant disease models for PWB studies is currently an unmet need.

Objective: Our study aims to generate PWB-derived induced pluripotent stem cells (iPSCs) and iPSC-derived ECs that preserve disease-related phenotypes.

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Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.

Orphanet J Rare Dis

September 2023

Department of Dermatology, Beijing Children's Hospital, Capital Medical University (National Center for Children's Health, China), No. 56 Nanlishi Road, Xicheng District, Beijing, 100045, China.

Article Synopsis
  • Somatic mutations in cancer driver genes are linked to various vascular malformations, affecting both mild skin issues and severe systemic problems, with limited prior research on these mutations in the Chinese population.
  • A study analyzed 67 pediatric patients with vascular malformations in Beijing, using whole-exome sequencing to identify mutations, achieving a 79.1% molecular diagnosis rate.
  • The study found common mutations in the PIK3CA gene, as well as notable GNAQ and TEK mutations associated with specific vascular conditions, and highlighted the potential for molecular diagnosis to improve patient treatment and management.
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Port Wine Birthmark (PWB) is a congenital vascular malformation in the skin, occurring in 1-3 per 1,000 live births. We recently generated PWB-derived induced pluripotent stem cells (iPSCs) as clinically relevant disease models. The metabolites associated with the pathological phenotypes of PWB-derived iPSCs are unknown, which we aimed to explore in this study.

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Port-wine birthmark (PWB) are congenital vascular malformations that commonly occur on the face and neck, with an incidence of 0.3-0.5% in the general population, causing significant negative psychological effects and economic burden to patients.

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Objective: Port wine birthmarks (PWBs) are vascular malformations affecting 0.3%-0.5% of newborns with the tendency to persist into adulthood without adequate treatment of the heterogenous ectatic vessels.

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Multiple General Anesthesia in Children: A Systematic Review of Its Effect on Neurodevelopment.

J Pers Med

May 2023

Section of Ear Nose and Throat (ENT), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, 37124 Verona, Italy.

The effect of multiple general anesthesia (mGA) procedures administered in early life is a critical theme and has led the Food and Drug Administration (FDA) to issue an alert. This systematic review seeks to explore the potential effects on neurodevelopment of mGA on patients under 4 years. The Medline, Embase and Web of Science databases were searched for publications up to 31 March 2021.

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Extended Application of Fractional Carbon Dioxide Laser in the Treatment of Port Wine Stain Birthmarks with Hypertrophy: A Case Report.

Photobiomodul Photomed Laser Surg

April 2023

Visiting Scholar, Lillian Carter Center for Global Health and Social Responsibility, Nell Hodgson Woodruff School of Nursing, Emory University, Atlanta, Georgia, USA.

Conventional treatments of port wine stain birthmarks often do not achieve the desired outcome in patients with hypertrophy. Potential reasons include deeper and larger blood vessels, abnormal arrangement of blood vessels, and darker or thicker epidermis. However, these factors may not significantly limit the efficacy of fractional carbon dioxide (CO) laser.

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American society of pediatric otolaryngology vascular anomalies task force review of tongue venous malformations: Techniques, pearls, and pitfalls.

Int J Pediatr Otorhinolaryngol

April 2023

Seattle Children's Hospital, Division of Pediatric Otolaryngology-Head and Neck Surgery, Seattle, WA, USA; University of Washington, Department of Otolaryngology-Head and Neck Surgery, Seattle, WA, USA; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, 98101, USA.

Management of tongue venous malformations can be challenging in the pediatric population due to their heterogeneity in presentation, extent of involvement and functional compromise. It is important to recognize the value of various treatment options in order to guide management of each patient in an individualized fashion. Here we describe a series of patients with tongue venous malformations that are managed using diverse modalities to illustrate the relative benefits and risks of each technique.

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PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.

J Invest Dermatol

June 2023

Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom; Paediatric Dermatology, Great Ormond Street Hospital, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. Electronic address:

Phakomatosis pigmentovascularis is a diagnosis that denotes the coexistence of pigmentary and vascular birthmarks of specific types, accompanied by variable multisystem involvement, including CNS disease, asymmetrical growth, and a predisposition to malignancy. Using a tight phenotypic group and high-depth next-generation sequencing of affected tissues, we discover here clonal mosaic variants in gene PTPN11 encoding SHP2 phosphatase as a cause of phakomatosis pigmentovascularis type III or spilorosea. Within an individual, the same variant is found in distinct pigmentary and vascular birthmarks and is undetectable in blood.

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