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International Journal of Molecular... Oct 2022Port-wine stains (PWSs) are congenital vascular malformations that involve the skin and mucosa. To date, the mechanisms underlying the pathogenesis and progression of... (Review)
Review
Port-wine stains (PWSs) are congenital vascular malformations that involve the skin and mucosa. To date, the mechanisms underlying the pathogenesis and progression of PWSs are yet to be clearly elucidated. The potential reasons for dilated vessels are as follows: (1) somatic (R183Q) mutations that form enlarged capillary malformation-like vessels through angiopoietin-2, (2) decreased perivascular nerve elements, (3) the coexistence of Eph receptor B1 and ephrin B2, and (4) the deficiency of αSMA expression in pericytes. In addition, ERK, c-JNK, P70S6K, AKT, PI3K, and PKC are assumed to be involved in PWS development. Although pulsed-dye laser (PDL) remains the gold standard for treating PWSs, the recurrence rate is high. Topical drugs, including imiquimod, axitinib, and rapamycin, combined with PDL treatments, are expected to alter the recurrence rate and reduce the number of PDL sessions for PWSs. For the deep vascular plexus, photosensitizers or photothermal transduction agents encapsulated by nanocarriers conjugated to surface markers (CD133/CD166/VEGFR-2) possess a promising therapeutic potential in photodynamic therapy or photothermal therapy for PWSs. The pathogenesis, progression, and treatment of PWSs should be extensively investigated.
Topics: Humans; Port-Wine Stain; Ribosomal Protein S6 Kinases, 70-kDa; Vascular Endothelial Growth Factor Receptor-2; Angiopoietin-2; Imiquimod; Photosensitizing Agents; Ephrin-B2; Axitinib; Proto-Oncogene Proteins c-akt; Receptor, EphA1; Sirolimus; Phosphatidylinositol 3-Kinases; Treatment Outcome
PubMed: 36292993
DOI: 10.3390/ijms232012139 -
Facial Plastic Surgery & Aesthetic... Apr 2020Port-wine stain (PWS) is a congenital capillary malformation occurring commonly in the head and neck. Left untreated, affected areas may darken and hypertrophy over...
Port-wine stain (PWS) is a congenital capillary malformation occurring commonly in the head and neck. Left untreated, affected areas may darken and hypertrophy over time, resulting in pronounced disfigurement, risk of spontaneous hemorrhage, and functional impairment. The burden of hypertrophic facial PWS and the benefit of laser therapy have not heretofore been well characterized. Herein, the health utility of these two states is assessed among naïve observers. Naïve observers ( = 262) ranked the utility of four randomized health states (monocular blindness, binocular blindness, hypertrophic facial PWS, and laser-treated facial PWS) by means of visual analogue scale (VAS), standard gamble (SG), and time trade-off (TTO) techniques. Health states are presented using standardized facial photographs. Health utilities (VAS, SG, and TTO) were reported as follows (mean ± standard deviation): monocular blindness (0.73 ± 0.21, 0.86 ± 0.21, 0.87 ± 0.18), binocular blindness (0.51 ± 0.26, 0.72 ± 0.27, 0.69 ± 0.27), hypertrophic facial PWS (0.71 ± 0.24, 0.83 ± 0.23, 0.83 ± 0.21), and laser-treated facial PWS (0.87 ± 0.16, 0.91 ± 0.18, 0.92 ± 0.16). Laser-treated facial PWS showed significantly higher utility measures than the untreated hypertrophic state ( < 0.001, all measures), with a difference of 3.24 quality-adjusted life years. Linear regression analysis revealed that non-Caucasian race and higher level of education were associated with lower SG and TTO utility scores for the hypertrophic facial PWS state among naïve observers. Societal-perceived utility of hypertrophic facial PWS is similar to that of monocular blindness. Laser-treated facial PWS is perceived significantly more favorably than the untreated hypertrophic state. These findings provide insight into the societal burden of facial PWS and impact of laser treatment, facilitating objective comparisons with other disparate disease states.
PubMed: 32320629
DOI: 10.1089/fpsam.2020.0059 -
Journal of Clinical and Diagnostic... Feb 2017
PubMed: 28384923
DOI: 10.7860/JCDR/2017/22731.9378 -
Cureus Apr 2023Sturge-Weber syndrome (SWS) is a rare neurological disorder that is present at birth. It is characterized by a reddish-purple birthmark on the face, typically on one...
Sturge-Weber syndrome (SWS) is a rare neurological disorder that is present at birth. It is characterized by a reddish-purple birthmark on the face, typically on one side of the forehead and upper eyelid, and sometimes involving the scalp and ear. This birthmark, called a port-wine stain, is caused by an abnormal buildup of blood vessels in the skin. SWS can also cause neurological problems such as seizures, developmental delays, and problems with vision and coordination. Treatment for SWS typically includes a combination of medications to control seizures and other symptoms, as well as laser therapy or surgery to reduce the appearance of the birthmark. Additionally, physical therapy and other therapies can help improve vision and coordination. It is important to note that the symptoms and severity of SWS can vary widely from person to person, and early diagnosis and treatment can help improve outcomes.
PubMed: 37181990
DOI: 10.7759/cureus.37451 -
International Journal of Molecular... May 2019Port wine stain (PWS) is a congenital vascular malformation involving human skin. Approximately 15-20% of children a facial PWS involving the ophthalmic (V1) trigeminal... (Review)
Review
Port wine stain (PWS) is a congenital vascular malformation involving human skin. Approximately 15-20% of children a facial PWS involving the ophthalmic (V1) trigeminal dermatome are at risk for Sturge Weber syndrome (SWS), a neurocutaneous disorder with vascular malformations in the cerebral cortex on the same side of the facial PWS lesions. Recently, evidence has surfaced that advanced our understanding of the pathogenesis of PWS/SWS, including discoveries of somatic genetic mutations (, ), MAPK and PI3K aberrant activations, and molecular phenotypes of PWS endothelial cells. In this review, we summarize current knowledge on the etiology and pathology of PWS/SWS based on evidence that the activation of MAPK and/or PI3K contributes to the malformations, as well as potential futuristic treatment approaches targeting these aberrantly dysregulated signaling pathways. Current data support that: (1) PWS is a multifactorial malformation involving the entire physiological structure of human skin; (2) PWS should be pathoanatomically re-defined as "a malformation resulting from differentiation-impaired endothelial cells with a progressive dilatation of immature venule-like vasculatures"; (3) dysregulation of vascular MAPK and/or PI3K signaling during human embryonic development plays a part in the pathogenesis and progression of PWS/SWS; and (4) sporadic low frequency somatic mutations, such as , , work as team players but not as a lone wolf, contributing to the development of vascular phenotypes. We also address many crucial questions yet to be answered in the future research investigations.
Topics: Angiogenesis Inhibitors; Animals; Humans; Laser Therapy; Mitogen-Activated Protein Kinases; Mutation; Phosphatidylinositol 3-Kinases; Port-Wine Stain; Sturge-Weber Syndrome
PubMed: 31067686
DOI: 10.3390/ijms20092243 -
Clinical, Cosmetic and Investigational... 2015Port-wine stains are a type of capillary malformation affecting 0.3% to 0.5% of the population. Port-wine stains present at birth as pink to erythematous patches on the... (Review)
Review
Port-wine stains are a type of capillary malformation affecting 0.3% to 0.5% of the population. Port-wine stains present at birth as pink to erythematous patches on the skin and/or mucosa. Without treatment, the patches typically darken with age and may eventually develop nodular thickening or associated pyogenic granuloma. Laser and light treatments provide improvement through selective destruction of vasculature. A variety of vascular-selective lasers may be employed, with the pulsed dye laser being the most common and well studied. Early treatment produces more optimal results. Advances in imaging and laser treatment technologies demonstrate potential to further improve clinical outcomes.
PubMed: 25624768
DOI: 10.2147/CCID.S53118 -
Acta Dermato-venereologica Aug 2021Port-wine stains are congenital vascular malformations that affect the quality of life of children and their parents. This study used the Family Dermatology Life Quality...
Port-wine stains are congenital vascular malformations that affect the quality of life of children and their parents. This study used the Family Dermatology Life Quality Index and Children's Dermatology Life Quality Index to examine the effects of port-wine stains on the quality of life of children and their parents, including an in-depth, systematic analysis of the moderating effects of the children's sex and port-wine stain classification. The study included 43 children (25 girls and 18 boys) and their parents. The presence of a port-wine stain had a significantly greater impact on the quality of life of mothers than on that of fathers (p < 0.001). Port-wine stains in girls had a greater effect on paternal quality of life than did port-wine stains in boys (girls p < 0.01; boys p = 0.542). Severe types of port-wine stains exerted a greater impact on maternal quality of life (pink-red type, dark-red type, and purple-dark type: p < 0.001, p = 0.948 and p = 0.086, respectively). There-fore, clinicians should consider familial relationships and differences when offering psychological support.
Topics: Child; Family; Female; Hemangioma, Capillary; Humans; Male; Parents; Port-Wine Stain; Quality of Life
PubMed: 34263327
DOI: 10.2340/00015555-3883 -
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 -
Frontiers in Physiology 2022Cosmetic skin diseases are a part of many dermatological concerns brought up by patients, which negatively affect mental health and quality of life. Imaging technology... (Review)
Review
Cosmetic skin diseases are a part of many dermatological concerns brought up by patients, which negatively affect mental health and quality of life. Imaging technology has an established role in the diagnosis of cosmetic skin diseases by recognizing information on deep skin lesions. Due to the complex physiological and pathological nature of cosmetic skin diseases, the diagnostic imaging performance varies greatly. Developing noninvasive technology models with wide applicability, particularly high-frequency ultrasound (HFUS), which is able to achieve high-resolution imaging of the skin from the stratum corneum down to the deep fascia, is of great significance to medical cosmetology. To explore the great potential of HFUS in cosmetic skin diseases, a narrative review of literature from PubMed and Web of Science published between 1985 and 2022 was conducted. This narrative review focuses on the progression of HFUS imaging in medical cosmetology, especially on its promising application in the quantitative evaluation and differential diagnosis of cutaneous pathological scar, port wine stain (PWS), acne, skin aging, and other cosmetic applications.
PubMed: 35860664
DOI: 10.3389/fphys.2022.885922 -
Lasers in Surgery and Medicine Aug 2009Port wine stains are congenital low-flow vascular malformations of the skin. Unlike hemangiomas, PWS do not involute with time, but rather if left untreated can... (Review)
Review
BACKGROUND AND OBJECTIVES
Port wine stains are congenital low-flow vascular malformations of the skin. Unlike hemangiomas, PWS do not involute with time, but rather if left untreated can hypertrophy and develop nodularity. Laser therapy of PWS particularly with pulsed-dye lasers, is a safe, well-established treatment that is successful in the majority of patients, especially for younger patients. Patients that fail to receive treatment early in life may subsequent develop lesions more likely to progress.
STUDY DESIGN/PATIENTS AND METHODS
A case report and review of the literature are presented. We report a 43 year-old man born with a port-wine stain on the right side of his face that extended in the V2 distribution on his face. He had undergone several sessions with a pulsed-dye laser, the sequential dual-wavelength (595 nm and 1064 nm) laser and a CO2 resurfacing laser from the age of 26 but failed to follow through with a sufficient number of treatments to prevent hypertrophy.
RESULTS
Due to an insufficient number and interval of treatments (with only 7 treatments over 16 years starting at age 26) with the various lasers, the patient's port wine stain continued to progress in color and development of nodularity.
CONCLUSIONS
Patients born with port wine stains should have early laser treatment to achieve optimal results. Delay in treatment, as in this patient until age 26, may result in hard to treat PWS that can continue to progress in nodularity. This case illustrates the hypertrophy and nodularity that can occur due to progression of a PWS with failure to follow through with sufficient number of laser treatments.
Topics: Adult; Humans; Lasers, Dye; Lasers, Gas; Low-Level Light Therapy; Male; Patient Compliance; Port-Wine Stain; Treatment Failure
PubMed: 19588535
DOI: 10.1002/lsm.20788