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Journal of Cosmetic Dermatology Jul 2021Port-wine stain (PWS) is a benign capillary malformation that most commonly occurs in the head and neck. It is present at birth and progresses over time. It is formed by... (Review)
Review
Port-wine stain (PWS) is a benign capillary malformation that most commonly occurs in the head and neck. It is present at birth and progresses over time. It is formed by progressive dilatation of post-capillary venules and is associated with hypertrophy and nodularity with increasing age, leading to cosmetic disfigurement and psychological aggravation. It is caused by genetic mosaicism in GNAQ and GNA11 genes. Histopathology is the gold standard for assessment of PWS but it is invasive and may cause scarring. Inadequate characterization of the lesions may predispose to inadequate treatment protocols as well as higher treatment dosages. Clinical evaluation of treatment efficacy is subjective and may not be a representative of actual results. Therefore, an objective visualization modality is required. With evolving technology, numerous optical instruments have been developed for objective evaluation and visualization of subsurface structures. These include VISIA-CR™ system, videodermoscopy, high-frequency ultrasound (HFUS), laser speckle contrast imaging (LSCI), reflectance spectrophotometers and tristimulus colorimeter, laser Doppler flowmetry (LDF), cross-polarized diffuse reflectance imaging system (CDR), reflectance confocal microscopy (RCM), optical coherence tomography (OCT), and spatial frequency domain imaging (SFDI). These semi-quantitative modes of diagnosis are complementary to each other. Some can be used in the clinical setting while others, due to high instrument cost, are limited to the research settings. In this review, we bring to you a brief overview of noninvasive diagnostic modalities in PWS.
Topics: Hemangioma, Capillary; Humans; Infant, Newborn; Microscopy, Confocal; Port-Wine Stain; Treatment Outcome; Vascular Malformations
PubMed: 33788368
DOI: 10.1111/jocd.14087 -
Journal of Drugs in Dermatology : JDD Jun 2022We read with great interest the recent publication by Fölster-Holst et al1 in the May issue of Journal of Drugs in Dermatology, which offered a brief update on the...
We read with great interest the recent publication by Fölster-Holst et al1 in the May issue of Journal of Drugs in Dermatology, which offered a brief update on the treatment of port-wine stains.
Topics: Humans; Port-Wine Stain
PubMed: 35674754
DOI: 10.36849/JDD.6264 -
Pediatric Dermatology Mar 2021Port-wine birthmarks (PWBs) are progressive vascular malformations with significant disfigurement and psychosocial morbidity; early light-based treatment has shown... (Review)
Review
Port-wine birthmarks (PWBs) are progressive vascular malformations with significant disfigurement and psychosocial morbidity; early light-based treatment has shown improved outcomes in the pediatric population. Somatic mosaic mutations underly the progressive nature of PWBs and explain the significant differences in response and heterogeneity of vessel architecture in the pediatric population when compared to the adult cohort. Here, we summarize a review of pediatric specific literature on the various light-based treatment modalities, including pulsed dye laser, near-infrared lasers, and intense pulsed light, providing the various indications, tips, advantages, and disadvantages for the pediatric dermatologist.
Topics: Adult; Child; Cohort Studies; Humans; Lasers, Dye; Low-Level Light Therapy; Port-Wine Stain; Treatment Outcome
PubMed: 33368674
DOI: 10.1111/pde.14503 -
Clinics in Dermatology 2022A port-wine stain (PWS) is a vascular birthmark present in 0.3% to 0.5% of newborns. If untreated, this erythematous patch will grow proportionally with the child to...
A port-wine stain (PWS) is a vascular birthmark present in 0.3% to 0.5% of newborns. If untreated, this erythematous patch will grow proportionally with the child to thicken and darken with age. PWSs have implications for the child's quality of life for many years, with cosmetic, medical, and psychosocial disability. Controversy exists in many aspects surrounding laser treatment of these birthmarks in the pediatric population. We have reviewed the clinical features as well as the historic and current laser treatment of PWS. We have also examined the current hot topics of debate surrounding the treatment of PWS in the pediatric population. These controversies include the patient age of treatment initiation, the long-term psychologic impact, the use of general anesthesia, the application of eye shields, and alternative treatments for recalcitrant PWS. We have concluded with a discussion on the future directions of management and treatment.
Topics: Child; Esthetics; Hemangioma, Capillary; Humans; Infant, Newborn; Port-Wine Stain; Quality of Life; Treatment Outcome
PubMed: 35190059
DOI: 10.1016/j.clindermatol.2021.08.006 -
Circulation Sep 2017Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary...
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)-AVM. Previously, we identified mutations in 50% of patients with CM-AVM. Herein we studied non-RASA1 patients to further elucidate the pathogenicity of CMs and AVMs.
METHODS
We conducted a genome-wide linkage study on a CM-AVM family. Whole-exome sequencing was also performed on 9 unrelated CM-AVM families. We identified a candidate gene and screened it in a large series of patients. The influence of several missense variants on protein function was also studied in vitro.
RESULTS
We found evidence for linkage in 2 loci. Whole-exome sequencing data unraveled 4 distinct damaging variants in in 5 families that cosegregated with CM-AVM. Overall, screening of detected 47 distinct mutations in 54 index patients: 27 led to a premature stop codon or splice-site alteration, suggesting loss of function. The other 20 are nonsynonymous variants that result in amino acid substitutions. In vitro expression of several mutations confirmed loss of function of EPHB4. The clinical features included multifocal CMs, telangiectasias, and AVMs.
CONCLUSIONS
We found mutations in patients with multifocal CMs associated with AVMs. The phenotype, CM-AVM2, mimics -related CM-AVM1 and also hereditary hemorrhagic telangiectasia. -encoded p120RASGAP is a direct effector of EPHB4. Our data highlight the pathogenetic importance of this interaction and indicts EPHB4-RAS-ERK signaling pathway as a major cause for AVMs.
Topics: Arteriovenous Malformations; Capillaries; Databases, Genetic; Female; Genome-Wide Association Study; Germ-Line Mutation; Humans; MAP Kinase Signaling System; Male; Pedigree; Port-Wine Stain; Receptor, EphB4; p120 GTPase Activating Protein
PubMed: 28687708
DOI: 10.1161/CIRCULATIONAHA.116.026886 -
Journal of Drugs in Dermatology : JDD May 2021Port-wine stain (PWS) is a congenital vascular malformation affecting 0.3–0.5% of normal population. These characteristic lesions arise due to the interplay of... (Review)
Review
Port-wine stain (PWS) is a congenital vascular malformation affecting 0.3–0.5% of normal population. These characteristic lesions arise due to the interplay of vascular, neural, and genetic factors. Treatment options include lasers, cosmetic tattooing, electrotherapy, cryosurgery, derma-abrasion, and skin grafting; however, none of these treatment alternatives appears to be satisfactory and is unable to provide consistent, satisfactory responses or even complete cures. Currently, laser is the treatment of choice, as it is comparatively safe and more effective than other procedures. The most commonly used modality is pulsed dye laser (PDL). The literature research includes peer-reviewed articles (clinical trials or scientific reviews). Studies were identified by searching electronic databases (MEDLINE and PubMed) to January 2020 and reference lists of respective articles. Only articles published in English language were included. J Drugs Dermatol. 20(5): doi:10.36849/JDD.5005.
Topics: Administration, Cutaneous; Angiogenesis Inhibitors; Clinical Trials as Topic; Combined Modality Therapy; Cosmetic Techniques; Cosmetics; Cryosurgery; Dermabrasion; Dermatology; Electric Stimulation Therapy; Emollients; Humans; Lasers, Dye; Patient Satisfaction; Port-Wine Stain; Quality of Life; Skin; Tattooing; Treatment Outcome
PubMed: 33938700
DOI: 10.36849/JDD.5005 -
Pediatric Dermatology Jan 2018Infants with a high-risk distribution of port-wine stains are commonly screened for Sturge-Weber syndrome using brain magnetic resonance imaging. There is no consensus... (Review)
Review
Infants with a high-risk distribution of port-wine stains are commonly screened for Sturge-Weber syndrome using brain magnetic resonance imaging. There is no consensus about which port-wine stain phenotypes to screen, optimal timing, screening sensitivity, or whether presymptomatic diagnosis improves neurodevelopmental outcomes. This state-of-the-art review examines the evidence in favor of screening for Sturge-Weber syndrome, based on its effect on neurodevelopmental outcomes, against the risks and limitations of screening magnetic resonance imaging and electroencephalography. A literature search of PubMed/MEDLINE was conducted between January 2005 and May 2017 using key search terms. Relevant articles published in English were reviewed; 34 articles meeting the search criteria were analyzed according to the following outcome measures: neurodevelopmental outcome benefit of screening, diagnostic yield, financial costs, procedural risks, and limitations of screening magnetic resonance imaging and electroencephalography. There is no evidence that a presymptomatic Sturge-Weber syndrome diagnosis with magnetic resonance imaging results in better neurodevelopmental outcomes. The utility of electroencephalographic screening is also unestablished. In Sturge-Weber syndrome, neurodevelopmental outcomes depend on prompt recognition of neurologic red flags and early seizure control. Small numbers and a lack of prospective randomized controlled trials limit these findings. For infants with port-wine stain involving skin derived from the frontonasal placode (forehead and hemifacial phenotypes), we recommend early referral to a pediatric neurologist for parental education, counselling, and monitoring for neurologic red flags and seizures and consideration of electroencephalography regardless of whether magnetic resonance imaging is performed or its findings.
Topics: Brain; Electroencephalography; Humans; Infant; Magnetic Resonance Imaging; Mass Screening; Neuroimaging; Port-Wine Stain; Seizures; Sturge-Weber Syndrome
PubMed: 29034507
DOI: 10.1111/pde.13304 -
Pediatric Dermatology Jan 2021To determine the role of sex in port-wine stain (PWS) distribution and describe the epidemiologic and anatomic differences between syndrome-associated and...
BACKGROUND/OBJECTIVES
To determine the role of sex in port-wine stain (PWS) distribution and describe the epidemiologic and anatomic differences between syndrome-associated and non-syndrome-associated PWS using modern criteria.
METHODS
A retrospective review of PWS patients aged 18 years and younger from 1995 to 2018 seen in the Department of Dermatology at an academic tertiary referral center. Cases were reviewed for sex, anatomic location, and presence of associated syndrome. 4,527 records were reviewed on the basis of ICD billing codes for congenital vascular malformations, with 516 meeting inclusion criteria.
RESULTS
516 patients were included in the analysis: 234 (45.4%) men and 282 (54.6%) women. A female preponderance of Sturge-Weber syndrome (18 of 23, 78%, P = .03) and a trend toward more female-isolated PWS (149 of 269, 55%, P = .72) were found. No lateral predominance observed for isolated PWS was found: 112(41.6%) limited left-side lesions and 113(42%) limited right-side lesions (P = .41). A trend toward Klippel-Trenaunay syndrome (KTS)-associated PWS occurring more commonly isolated to the left side (76 (45.5%) vs 59 (35.12%) P = .29) was found. Nine percent of SWS patients had a PWS on the body. Five percent of KTS patients had a facial PWS. The lower limb was the most common location overall of body PWS with 33.8% of isolated PWS and 81.5% of KTS patients having a lower limb lesion.
CONCLUSIONS
Female children were more likely to be diagnosed with SWS, and a trend toward more isolated PWS in women was found. No lateral predominance of isolated PWS was found, but KTS-associated PWS was more common on the left. A considerable proportion of lesions do not appear in anatomic locations traditionally considered typical in the setting of associated syndromes, which underscores the importance of conducting a complete physical examination and adhering to diagnostic criteria for those syndromes.
Topics: Adolescent; Child; Female; Hemangioma, Capillary; Humans; Klippel-Trenaunay-Weber Syndrome; Male; Port-Wine Stain; Retrospective Studies; Sturge-Weber Syndrome; Vascular Diseases
PubMed: 33170527
DOI: 10.1111/pde.14392 -
Current Opinion in Ophthalmology Sep 2019Sturge-Weber syndrome (SWS) is a rare, congenital disease which frequently involves the eye. It is important that ophthalmologists recognize this syndrome and are aware... (Review)
Review
PURPOSE OF REVIEW
Sturge-Weber syndrome (SWS) is a rare, congenital disease which frequently involves the eye. It is important that ophthalmologists recognize this syndrome and are aware of its range of ocular manifestations. The aim of this article is to present our understanding of the pathogenesis and clinical manifestations of this syndrome and provide updated information on the treatment of SWS glaucoma and choroidal hemangioma.
RECENT FINDINGS
SWS glaucoma usually fails medical management. Surgical options include angle procedures, filtering procedures, device placement, and combination procedures. Combination procedures have become popular in this population due to the single procedure failure rate of angle surgery and the complications associated with device implantation. Choroidal hemangioma is best treated by photodynamic therapy.
SUMMARY
Lifelong monitoring for ocular complications related to SWS is essential. There is a need for consensus guidelines on care and surveillance of patients with SWS to provide the best care for these patients.
Topics: Choroid Neoplasms; Filtering Surgery; Glaucoma; Hemangioma; Humans; Photochemotherapy; Port-Wine Stain; Sturge-Weber Syndrome
PubMed: 31313748
DOI: 10.1097/ICU.0000000000000597 -
Clinical, Cosmetic and Investigational... 2023Port wine stain (PWS) is a congenital and progressive capillary malformation characterized by structural abnormalities of intradermal capillaries and postcapillary... (Review)
Review
Port wine stain (PWS) is a congenital and progressive capillary malformation characterized by structural abnormalities of intradermal capillaries and postcapillary venules. The visible manifestation is often considered a disfigurement and the accompanying social stigma often causes serious emotional and physical impact. Hematoporphyrin monomethyl ether (HMME) is a newly authorized photosensitizer for treating PWS in China. Hematoporphyrin monomethyl ether photodynamic therapy (HMME-PDT) has successfully treated thousands of Chinese patients with PWS since 2017, and HMME-PDT may be one of the most promising strategies for the treatment of PWS. However, there are few reviews published about the clinical use of HMME-PDT. So in this article, we want to briefly review the mechanism, efficacy evaluation, effectiveness and influencing factors, and the common postoperative reactions and treatment suggestions of HMME-PDT in the treatment of PWS.
PubMed: 37139084
DOI: 10.2147/CCID.S401447