Medical Management and Therapeutic Updates on Vascular Anomalies of the Head and Neck: Part 2

Article Oncology

Response to sirolimus in capillary lymphatic venous malformations and associated syndromes: Impact on symptomatology, quality of life, and radiographic response

Elissa R. Engel et al.

Summary: Sirolimus therapy is safe and effective in reducing complications and improving quality of life in patients with capillary lymphatic venous malformations and associated syndromes.

PEDIATRIC BLOOD & CANCER (2023)

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Article Dermatology

Delayed ulceration following combination pulse dye laser and topical sirolimus treatment for port wine birthmarks: A case series

Catherine Grace P. Hobayan et al.

Summary: Port wine birthmarks (PWB) are vascular malformations that can darken and thicken with age, commonly occurring on the head and neck. Pulsed dye laser (PDL) is the preferred treatment for PWB as it targets the affected blood vessels. Sirolimus, an antibiotic, can be used in combination with PDL to suppress angiogenesis pathways. However, there is a potential risk of delayed ulceration and systemic sirolimus absorption, which raises concerns about patient safety.

PEDIATRIC DERMATOLOGY (2023)

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Article Genetics & Heredity

Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

Srimmitha Balachandar et al.

Summary: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant vascular dysplasia caused by mutations in ACVRL1, ENG, or SMAD4 genes. A novel GDF2 variant has been identified in HHT patients with pulmonary AVMs, suggesting a new association between GDF2 mutations and HHT.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022)

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Article Oncology

How we approach the diagnosis and management of complex lymphatic anomalies

Kiersten W. Ricci et al.

Summary: CLAs are congenital diseases of the lymphatic circulation system associated with significant morbidity and early mortality. This article presents clinical features of four CLAs and provides perspectives on diagnostic testing and disease management, including supportive care, medical therapies, and other interventions, based on three cases from the authors' practice.

PEDIATRIC BLOOD & CANCER (2022)

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Article Dermatology

Somatic mutational landscape of extracranial arteriovenous malformations and phenotypic correlations

F. N. El Sissy et al.

Summary: This study characterizes the somatic genetic landscape of extracranial arteriovenous malformations and identifies a correlation between genotype, clinical severity, and angiographic characteristics. Pathogenic somatic variants, predominantly in MAP2K1 and KRAS genes, were found with high prevalence. These findings could lead to new therapeutic options for extracranial arteriovenous malformations.

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2022)

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Article Oncology

How we approach genetics in the diagnosis and management of vascular anomalies

Bhuvana A. Setty et al.

Summary: This article describes the classification of vascular anomalies and recent advances in molecular genetics, as well as how identification of causative genetic mutations can improve the management of patients.

PEDIATRIC BLOOD & CANCER (2022)

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Review Clinical Neurology

Molecular and genetic mechanisms in brain arteriovenous malformations: new insights and future perspectives

Sandra Vetiska et al.

Summary: In this review, recent advances in the molecular and genetic studies of bAVMs are comprehensively reviewed, providing a better understanding of the pathogenesis of bAVMs and offering new perspectives in medical treatment.

NEUROSURGICAL REVIEW (2022)

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Review Otorhinolaryngology

Contemporary Management of Vascular Anomalies of the Head and Neck-Part 1: Vascular Malformations A Review

Sara C. Gallant et al.

Summary: Vascular anomalies of the head and neck are rare lesions that can involve critical structures, requiring a multidisciplinary approach for management. Different treatment modalities exist, including medical therapies, sclerotherapy, embolization procedures, and surgery. Ongoing advancements in medical, interventional radiologic, and surgical interventions aim to optimize function and cosmesis while minimizing treatment-related morbidity.

JAMA OTOLARYNGOLOGY-HEAD & NECK SURGERY (2021)

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Article Clinical Neurology

Sirolimus Treatment in Sturge-Weber Syndrome

Alison J. Sebold et al.

Summary: Studies suggest sirolimus may be beneficial in improving cognitive impairments in patients with Sturge-Weber syndrome, especially those with impaired processing speed or a history of SLE. Further randomized controlled trials are needed to confirm these potential benefits.

PEDIATRIC NEUROLOGY (2021)

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Review Cardiac & Cardiovascular Systems

Genetic Basis and Therapies for Vascular Anomalies

Angela Queisser et al.

Summary: In recent years, research on genetic and somatic mutations in vascular and lymphatic malformations has led to the evaluation of preexisting cancer drugs that interfere with these signaling pathways, marking the beginning of personalized treatment for vascular anomalies.

CIRCULATION RESEARCH (2021)

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Article Dermatology

Sirolimus (Rapamycin) for Slow-Flow Malformations in Children The Observational-Phase Randomized Clinical PERFORMUS Trial

Annabel Maruani et al.

Summary: This study aimed to evaluate the efficacy and safety of sirolimus in treating children with slow-flow vascular malformations. Results showed that sirolimus significantly reduced volume and pain for children with pure lymphatic malformations. Overall, sirolimus had positive effects on pain, bleeding, oozing, self-assessed efficacy, and quality of life.

JAMA DERMATOLOGY (2021)

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Article Otorhinolaryngology

Management of extracranial arteriovenous malformations of the head and neck

Veronica Fernandez-Alvarez et al.

AURIS NASUS LARYNX (2020)

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Article Medicine, General & Internal

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia

Marie E. Faughnan et al.

ANNALS OF INTERNAL MEDICINE (2020)

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Article Medicine, Research & Experimental

Kaposiform lymphangiomatosis effectively treated withMEKinhibition

Jessica B. Foster et al.

EMBO MOLECULAR MEDICINE (2020)

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Article Pediatrics

Monitoring Arteriovenous Malformation Response to Genotype-Targeted Therapy

Emily A. Edwards et al.

PEDIATRICS (2020)

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Article Pediatrics

Coagulation issues in vascular anomalies

Kiersten W. Ricci et al.

SEMINARS IN PEDIATRIC SURGERY (2020)

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Letter Dermatology

Sirolimus for treatment of verrucous venous malformation: A retrospective cohort study

Gaolei Zhang et al.

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2019)

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Article Oncology

Efficacy of systemic sirolimus in the treatment of generalized lymphatic anomaly and Gorham-Stout disease

Kiersten W. Ricci et al.

PEDIATRIC BLOOD & CANCER (2019)

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Article Oncology

Effect of sirolimus on coagulopathy of slow-flow vascular malformations

Joana M. Mack et al.

PEDIATRIC BLOOD & CANCER (2019)

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Review Biochemistry & Molecular Biology

Recent Advances in Basic Research for Brain Arteriovenous Malformation

Leandro Barbosa Do Prado et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)

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Article Pediatrics

Clinical Practice Guideline for the Management of Infantile Hemangiomas

Daniel P. Krowchuk et al.

PEDIATRICS (2019)

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Letter Dermatology

Genotype-Guided Medical Treatment of an Arteriovenous Malformation in a Child

Ramrada Lekwuttikarn et al.

JAMA DERMATOLOGY (2019)

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Review Surgery

Venous malformations of the head and neck: A retrospective review of 82 cases

Hannara Park et al.

ARCHIVES OF PLASTIC SURGERY-APS (2019)

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Review Hematology

Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective

Athena Kritharis et al.

HAEMATOLOGICA (2018)

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Article Surgery

Vascular Anomalies: From a Clinicohistologic to a Genetic Framework

Arin K. Greene et al.

PLASTIC AND RECONSTRUCTIVE SURGERY (2018)

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Review Hematology

Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective

Athena Kritharis et al.

HAEMATOLOGICA (2018)

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Article Genetics & Heredity

Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study

Jennifer Hammer et al.

ORPHANET JOURNAL OF RARE DISEASES (2018)

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Article Dermatology

Prospective pilot study on combined use of pulsed dye laser and 1% topical rapamycin for treatment of nonfacial cutaneous capillary malformation

Eun Jin Doh et al.

JOURNAL OF DERMATOLOGICAL TREATMENT (2017)

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Review Clinical Neurology

Management of Brain Arteriovenous Malformations A Scientific Statement for Healthcare Professionals From the American Heart Association/American Stroke Association

Colin P. Derdeyn et al.

STROKE (2017)

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Article Pediatrics

Efficacy and Safety of Sirolimus in the Treatment of Complicated Vascular Anomalies

Denise M. Adams et al.

PEDIATRICS (2016)

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Article Clinical Neurology

Complications and mortality in hereditary hemorrhagic telangiectasia A population-based study

James W. Donaldson et al.

NEUROLOGY (2015)

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Article Pediatrics

Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies

Michel Wassef et al.

PEDIATRICS (2015)

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Article Genetics & Heredity

National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

P. M. Torring et al.

CLINICAL GENETICS (2014)

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Article Dermatology

Early Versus Later Presentations of Venous Malformations: Where and Why?

Sinae A. Vogel et al.

PEDIATRIC DERMATOLOGY (2013)

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Article Surgery

Management of Venous Malformations

Gresham T. Richter et al.

FACIAL PLASTIC SURGERY (2012)

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Article Surgery

Special Considerations in Vascular Anomalies: Hematologic Management

Denise M. Adams

CLINICS IN PLASTIC SURGERY (2011)

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Article Oncology

Sirolimus for the Treatment of Complicated Vascular Anomalies in Children

Adrienne M. Hammill et al.

PEDIATRIC BLOOD & CANCER (2011)

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Article Clinical Neurology

The Natural History and Predictive Features of Hemorrhage From Brain Arteriovenous Malformations

Leodante da Costa et al.

STROKE (2009)

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Article Dermatology

Coagulation disorders in patients with venous malformation of the limbs and trunk

Elisabeth Mazoyer et al.

ARCHIVES OF DERMATOLOGY (2008)

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Article Dermatology

Association of localized intravascular coagulopathy with venous malformations

Anne Dompmartin et al.

ARCHIVES OF DERMATOLOGY (2008)

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Letter Medicine, General & Internal

Propranolol for severe hemangiomas of infancy

Christine Leaute-Labreze et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

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Article Medicine, General & Internal

Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia

AD Kjeldsen et al.

JOURNAL OF INTERNAL MEDICINE (2005)

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Article Hematology

Coagulation abnormalities associated with extensive venous malformations of the limbs: differentiation from Kasabach-Merritt syndrome

E Mazoyer et al.

CLINICAL AND LABORATORY HAEMATOLOGY (2002)

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Medical Management and Therapeutic Updates on Vascular Anomalies of the Head and Neck: Part 2

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