Denise W. Metry
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View article: Adding to Your Tool Box: Laser Therapy for Vascular Anomalies
Adding to Your Tool Box: Laser Therapy for Vascular Anomalies Open
Adjuvant laser therapy of vascular anomalies is based on the principle of selective photo‐thermolysis, through targeted destruction of selected chromophores with minimal injury to surrounding tissue. Choice of laser wavelength, treatment p…
View article: A Retrospective Study of Infant and Maternal Risk Factors in <scp>LUMBAR</scp> Syndrome
A Retrospective Study of Infant and Maternal Risk Factors in <span>LUMBAR</span> Syndrome Open
Background LUMBAR syndrome is the association of segmental infantile hemangiomas that affect the Lower part of the body with Urogenital anomalies, hemangioma Ulceration, spinal cord Malformations, Bony deformities, Anorectal malformations,…
View article: Congenital Cutaneous Hamartomas With Skeletal Muscle Differentiation Associated With <scp>LUMBAR</scp> Syndrome
Congenital Cutaneous Hamartomas With Skeletal Muscle Differentiation Associated With <span>LUMBAR</span> Syndrome Open
Background/Objectives Congenital skin anomalies have been observed in LUMBAR syndrome, but their clinicopathologic significance remains unclear. This study aimed to investigate the congenital, nonvascular skin anomalies in LUMBAR syndrome …
View article: Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome
Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome Open
These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In…
View article: Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10
Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10 Open
PHACE syndrome is associated with long-term, mild to severe morbidities including IH residua, headaches, learning differences, and progressive arteriopathy. Primary and specialty follow-up care is critical for PHACE patients into adulthood.
View article: Analysis of Whole Genome Sequencing in a Cohort of Individuals with PHACE Syndrome Suggests Dysregulation of RAS/PI3K Signaling
Analysis of Whole Genome Sequencing in a Cohort of Individuals with PHACE Syndrome Suggests Dysregulation of RAS/PI3K Signaling Open
The acronym PHACE stands for the co-occurrence of posterior brain fossa malformations, hemangiomas, arterial anomalies, cardiac defects, and eye abnormalities. The majority of patients have a segmental hemangioma and at least one developme…
View article: Consensus Statement for the Management and Treatment of Port-Wine Birthmarks in Sturge-Weber Syndrome
Consensus Statement for the Management and Treatment of Port-Wine Birthmarks in Sturge-Weber Syndrome Open
These recommendations are intended to help guide clinical practice and decision-making for patients with SWS and those with isolated PWBs and may improve patient outcomes.
View article: CONSENSUS STATEMENT FOR TREATMENT OF PORT WINE BIRTHMARKS IN STURGE-WEBER SYNDROME
CONSENSUS STATEMENT FOR TREATMENT OF PORT WINE BIRTHMARKS IN STURGE-WEBER SYNDROME Open
Author(s): Sabeti, Sara; Burkhart, Craig; Eichenfield, Lawrence F; Faith, Esteban Fernandez; Frieden, Ilona J; Geronemus, Roy G; Gupta, Deepti; Krakowski, Andrew C; Levy, Moise L; Metry, Denise; Nelson, J Stuart; Tollefson, Megha; Kelly, K…
View article: Management of infantile hemangiomas during the COVID pandemic
Management of infantile hemangiomas during the COVID pandemic Open
The COVID‐19 pandemic has caused significant shifts in patient care including a steep decline in ambulatory visits and a marked increase in the use of telemedicine. Infantile hemangiomas (IH) can require urgent evaluation and risk stratifi…
View article: A Basic Introduction to Pediatric Vascular Anomalies
A Basic Introduction to Pediatric Vascular Anomalies Open
Vascular malformation classifications were first described by Mulliken and Glowacki in 1982, eventually forming the International Society for the Study of Vascular Anomalies (ISSVA) classifications. Due to confusion with nomenclature and c…
View article: Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome
Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome Open
PHACE syndrome is the association of segmental facial hemangiomas with congenital arterial, brain, cardiac, and ocular anomalies. Structural brain malformations affect 41–52% of PHACE patients and can be associated with focal neurologic de…
View article: Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling Open
Background: Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary hemorrhagic telangiectasia and capillary malformation (CM)-A…