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Birthmark vascular

Sheilagh M Maguiness
Over the past decade, I have been amazed at the growth in the field of vascular anomalies. The recognition of vascular birthmarks as a defined area of medicine is a relatively recent event. The International Society for the Study of Vascular Anomalies (ISSVA) was founded by Drs John Mulliken and Anthony Young in the late 1970s. Mulliken and Glowacki's sentinel 1982 paper on the biologic classification of vascular anomalies further established the field, by providing clarity of nomenclature and unifying concepts that had previously been lacking...
March 2016: Seminars in Cutaneous Medicine and Surgery
Anne M Comi, Mustafa Sahin, Adrienne Hammill, Emma H Kaplan, Csaba Juhász, Paula North, Karen L Ball, Alex V Levin, Bernard Cohen, Jill Morris, Warren Lo, E Steve Roach
Sturge-Weber syndrome (SWS) is a vascular neurocutaneous disorder that results from a somatic mosaic mutation in GNAQ, which is also responsible for isolated port-wine birthmarks. Infants with SWS are born with a cutaneous capillary malformation (port-wine birthmark) of the forehead or upper eyelid which can signal an increased risk of brain and/or eye involvement prior to the onset of specific symptoms. This symptom-free interval represents a time when a targeted intervention could help to minimize the neurological and ophthalmologic manifestations of the disorder...
May 2016: Pediatric Neurology
Bernard Choi, Wenbin Tan, Wangcun Jia, Sean M White, Wesley J Moy, Bruce Y Yang, Jiang Zhu, Zhongping Chen, Kristen M Kelly, J Stuart Nelson
Here, we review our current knowledge on the etiology and treatment of port-wine stain (PWS) birthmarks. Current treatment options have significant limitations in terms of efficacy. With the combination of 1) a suitable preclinical microvascular model, 2) laser speckle imaging (LSI) to evaluate blood-flow dynamics, and 3) a longitudinal experimental design, rapid preclinical assessment of new phototherapies can be translated from the lab to the clinic. The combination of photodynamic therapy (PDT) and pulsed-dye laser (PDL) irradiation achieves a synergistic effect that reduces the required radiant exposures of the individual phototherapies to achieve persistent vascular shutdown...
May 2016: IEEE Journal of Selected Topics in Quantum Electronics
M Fernanda Greco, Ilona J Frieden, Beth A Drolet, María C Garzon, Anthony J Mancini, Sarah L Chamlin, Denise Metry, Denise Adams, Anne Lucky, Mary Sue Wentzel, Kimberly A Horii, Eulalia Baselga, Catherine C McCuaig, Julie Powell, Anita Haggstrom, Dawn Siegel, Kimberly D Morel, M Rosa Cordisco, Amy J Nopper, Alfons Krol
BACKGROUND: Twins have a higher-than-expected risk of infantile hemangiomas (IHs), but the exact reasons for this association are not clear. Comparing concordant and discordant twin pairs might help elucidate these factors and yield more information about IH risk factors. METHODS: A prospective cohort study of twin pairs from 12 pediatric dermatology centers in the United States, Canada, Argentina, and Spain was conducted. Information regarding maternal pregnancy history, family history of vascular birthmarks, zygosity (if known), and pregnancy-related information was collected...
March 2016: Pediatric Dermatology
Anna C Thomas, Zhiqiang Zeng, Jean-Baptiste Rivière, Ryan O'Shaughnessy, Lara Al-Olabi, Judith St-Onge, David J Atherton, Hélène Aubert, Lorea Bagazgoitia, Sébastien Barbarot, Emmanuelle Bourrat, Christine Chiaverini, W Kling Chong, Yannis Duffourd, Mary Glover, Leopold Groesser, Smail Hadj-Rabia, Henning Hamm, Rudolf Happle, Imran Mushtaq, Jean-Philippe Lacour, Regula Waelchli, Marion Wobser, Pierre Vabres, E Elizabeth Patton, Veronica A Kinsler
Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and associated with extracutaneous abnormalities. Co-occurrence with vascular birthmarks defines a subtype of phakomatosis pigmentovascularis, a group of syndromes associated with neurovascular, ophthalmological, overgrowth, and malignant complications. Here, we discover that extensive dermal melanocytosis and phakomatosis pigmentovascularis are associated with activating mutations in GNA11 and GNAQ, genes that encode Gα subunits of heterotrimeric G proteins...
April 2016: Journal of Investigative Dermatology
Leelawadee Techasatian, Patchareeporn Tanming, Sunee Panombualert, Rattapon Uppala, Charoon Jetsrisuparb
BACKGROUND: Vascular anomalies or vascular birthmarks can be divided in to 2 major groups: (i) vascular tumors and (ii) vascular malformations. Currently, there are many treatment modalities for these diseases and the treatment plans are varied among sub-specialty physicians. OBJECTIVE: To explore the epidemiology of vascular anomalies at Srinagrind Hospital during 2009-2011. MATERIAL AND METHOD: Retrospective chart was reviewed from the out patient clinic's database at Srinagarind Hospital, Faculty of Medicine, Khon Kaen University, Thailand...
August 2015: Journal of the Medical Association of Thailand, Chotmaihet Thangphaet
Anne Comi
Sturge-Weber syndrome is a vascular malformation syndrome consisting of a facial port-wine birthmark associated with malformed leptomeningeal blood vessels and a choroid "angioma" of the eye. It is a rare neurocutaneous disorder that occurs sporadically, is not inherited, and is caused by a somatic mosaic mutation in GNAQ. In patients with Sturge-Weber syndrome, brain involvement typically presents in infancy with seizures, strokes, and stroke-like episodes, and a range of neurologic impairments. Standard treatment includes laser therapy for the birthmark, control of glaucoma through eyedrops or surgery, and the use of anticonvulsants...
December 2015: Seminars in Pediatric Neurology
Geoffrey L Heyer
PHACE(S) syndrome is a neurocutaneous disorder of unknown etiology. The acronym refers to the commonest features of PHACE: posterior fossa malformations, large facial hemangiomas, cerebral arterial anomalies, cardiovascular anomalies, and eye anomalies. When ventral developmental defects such as sternal clefting or supraumbilical raphe occur, the PHACES acronym may be used. The hallmark feature of PHACE is the presence of one or more large facial infantile hemangiomas that occupy at least one facial segment...
2015: Handbook of Clinical Neurology
Brian M Faux, Abraham W Suhr, David T Hsieh
No abstract text is available yet for this article.
September 2015: Pediatrics in Review
E T M Mapelli, S Menni, L Gualandri, E Agape, A Cerri
Birthmarks can frequently be seen in newborn babies, but their etiopathogenesis is often unclear. These lesions can be divided into three groups: vascular birthmarks, pigmented birthmarks, and birthmarks resulting in abnormal development. Some birthmarks may require further analysis and clinical follow-up in order to rule out underlying defects, malignant potential, or correlation with syndromic diseases. Presented here is the case of a newborn baby with two simultaneous birthmarks: an adnexal polyp and a nevus anemicus...
May 2015: Dermatology Online Journal
Kevin S H Koo, Christopher F Dowd, Erin F Mathes, Kristina W Rosbe, William Y Hoffman, Ilona J Frieden, Christopher P Hess
BACKGROUND: The incidence of localized intravascular coagulopathy (LIC) in venous malformations varies with lesion size and location, as well as the presence of palpable phleboliths. The development of LIC can cause pain and hemorrhage and can progress to disseminated intravascular coagulopathy (DIC) and thromboembolic disease resulting in death in some cases. Early recognition of LIC can relieve symptoms and prevent progression to life-threatening complications. OBJECTIVE: The aim of this work was to identify MRI features of venous malformation associated with LIC...
October 2015: Pediatric Radiology
Michel Wassef, Francine Blei, Denise Adams, Ahmad Alomari, Eulalia Baselga, Alejandro Berenstein, Patricia Burrows, Ilona J Frieden, Maria C Garzon, Juan-Carlos Lopez-Gutierrez, David J E Lord, Sally Mitchel, Julie Powell, Julie Prendiville, Miikka Vikkula
Vascular anomalies represent a spectrum of disorders from a simple "birthmark" to life- threatening entities. Incorrect nomenclature and misdiagnoses are commonly experienced by patients with these anomalies. Accurate diagnosis is crucial for appropriate evaluation and management, often requiring multidisciplinary specialists. Classification schemes provide a consistent terminology and serve as a guide for pathologists, clinicians, and researchers. One of the goals of the International Society for the Study of Vascular Anomalies (ISSVA) is to achieve a uniform classification...
July 2015: Pediatrics
L Rossler, V Sander, I Teuber, M Stücker, A Kreuter, I Stricker, E Hamelmann
Clinical history, physical examination, evolution and imaging findings (Colour Doppler sonography, MRI if available) are of pivotal importance in the diagnostic pathway of an infantile vascular anomaly. Histopathology with specific stains and markers is contributive in difficult cases. Differentiation between vascular tumors (hemangioma) and vascular malformations is now well known and integrated into the ISSVA classification. We report here a 6-months-old boy, who presented with a localized cutaneous and expansive vascular birthmark in the left cheek and developed bleedings at the age of 18 months...
May 2015: Klinische Pädiatrie
Allyson A Spence-Shishido, William V Good, Eulalia Baselga, Ilona J Frieden
Infantile hemangiomas are a common vascular birthmark with heterogeneous presentations and unique growth characteristics with early rapid growth and eventual self-involution. Hemangiomas that develop around the eye have the potential for inducing amblyopia by several mechanisms and may eventually result in permanent visual impairment in otherwise healthy infants. Segmental periocular hemangiomas carry the additional risk of associated structural anomalies and PHACE syndrome. In recent years, the treatment of periocular hemangiomas has been revolutionized by the serendipitous discovery of the effectiveness of beta-blockers (systemic and topical), with most experts viewing these as first-line therapies...
March 2015: Clinics in Dermatology
Dana F Feigenbaum, Virginia P Sybert, Sheryll L Vanderhooft, Dawn Siegel, Beth A Drolet, Ilona J Frieden, Erin F D Mathes
Areas of blanched skin in children may be seen as an independent finding or in association with vascular birthmarks. We performed a retrospective chart review to identify and describe infants with areas of ventral midline blanching in the presence of segmental infantile hemangiomas. We identified nine full-term infants with partial or full segmental hemangiomas and areas of midline ventral blanching. Additional ventral wall defects were seen in five patients. Six had cardiac anomalies and six had intracranial anomalies...
March 2015: Pediatric Dermatology
Eboni I Lance, Kira E Lanier, T Andrew Zabel, Anne M Comi
BACKGROUND: Sturge-Weber syndrome is characterized by a facial port-wine birthmark, vascular eye abnormalities, and a leptomeningeal angioma. Attention and behavioral issues are common in Sturge-Weber syndrome. However, literature evidence for stimulant treatment is minimal. This study evaluates stimulant medication safety and efficacy in individuals with Sturge-Weber syndrome. METHODS: The research database of the Hunter Nelson Sturge-Weber Center (n = 210 subjects in the database) was reviewed for stimulant use...
November 2014: Pediatric Neurology
A N Haggstrom, I J Frieden
No abstract text is available yet for this article.
October 2014: British Journal of Dermatology
D Li, G X Wang, Y L He, K M Kelly, W J Wu, Y X Wang, Z X Ying
Selective photothermolysis is the basic principle for laser treatment of vascular malformations such as port wine stain birthmarks (PWS). During cutaneous laser surgery, blood inside blood vessels is heated due to selective absorption of laser energy, while the surrounding normal tissue is spared. As a result, the blood and the surrounding tissue experience a local thermodynamic non-equilibrium condition. Traditionally, the PWS laser treatment process was simulated by a discrete-blood-vessel model that simplifies blood vessels into parallel cylinders buried in a multi-layer skin model...
September 25, 2013: Applied Thermal Engineering
Bin Zhang, Tao-Hua Zhang, Zheng Huang, Qin Li, Kai-Hua Yuan, Zhi-Qi Hu
BACKGROUND: Vascular-acting photodynamic therapy (PDT) might be an alternative approach for treating port wine stain (PWS) birthmarks, but the usefulness of PDT for pediatric patients has not been fully investigated. STUDY DESIGN: Medical records of pediatric patients (3-10 years old) with red and purple facial PWS were analyzed. Clinical outcomes after one session of PDL (585 nm, 4.8-6.5 J/cm(2)) and PDT (Hemoporfin - 3.5mg/kg, copper vapour laser - 120 J/cm(2)) were compared...
December 2014: Photodiagnosis and Photodynamic Therapy
Roderic J Phillips, Zerina Lokmic, Catherine M Crock, Anthony Penington
AIM: To describe the clinical and histopathological characteristics of infantile haemangiomas that failed treatment with oral propranolol . DESIGN: This study is a case series from the vascular birthmarks clinic at Royal Children's Hospital, Melbourne. PATIENTS: The patients for this study were infants who commenced treatment with oral propranolol before 6 months of age and who were treated for at least 4 months without a satisfactory result...
August 2014: Journal of Paediatrics and Child Health
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