-
Histology and Histopathology May 2019Port wine stain (PWS) is characterized as a progressive dilatation of immature venule-like vasculatures which result from differentiation-impaired endothelial cells. In...
INTRODUCTION
Port wine stain (PWS) is characterized as a progressive dilatation of immature venule-like vasculatures which result from differentiation-impaired endothelial cells. In this study, we aimed to identify the major biological pathways accounting for the pathogenesis of PWS.
METHODS
Sequential windowed acquisition of all theoretical fragment ion mass spectra (SWATH-MS) was used to identify differentially expressed proteins in PWS lesions, followed by confirmative studies with immunohistochemistry, immunoblot and transmission electron microscopy (TEM).
RESULTS
107 out of 299 identified proteins showed differential expressions in PWS lesions as compared to normal skin, mainly involving the functions of biosynthesis, membrane trafficking, cytoskeleton and cell adhesion/migration. The confirmative studies showed that expressions of membrane trafficking/exocytosis related proteins such as VAT1, IQGAP1, HSC70, clathrin, perlecan, spectrin α1 and GDIR1 were significantly increased in PWS blood vessels as compared to normal ones; while collagen subtypes 6A1 and 6A3 were decreased in PWS skin. Furthermore, TEM studies showed there is a significant upregulation of extracellular vesicle exocytosis from PWS blood vessels as compared to control.
CONCLUSIONS
The biological process of membrane trafficking and exocytosis is enhanced in PWS blood vessels. Our results imply that the extracellular vesicles released by lesional endothelial cells may act as potential intercellular signaling mediators to contribute to the pathogenesis of PWS.
Topics: Endothelial Cells; Exocytosis; Humans; Port-Wine Stain; Protein Transport; Up-Regulation
PubMed: 30302745
DOI: 10.14670/HH-18-051 -
Postepy Dermatologii I Alergologii Oct 2022One of the most common congenital vascular abnormalities in the dermal area of the skin is the port-wine stain (PWS).
INTRODUCTION
One of the most common congenital vascular abnormalities in the dermal area of the skin is the port-wine stain (PWS).
AIM
Researchers are trying to introduce more effective new methods of treatment of PWS.
MATERIAL AND METHODS
This clinical trial study was conducted on 60 patients in Huanggang Central Hospital during May 2020 to June 2021. Pulsed dye laser (PDL) only and PDL plus CO2 methods were used to treat PWS, the clearance scores of patients were assessed for both methods, and the side effects were examined.
RESULTS
The mean age of the patients was 26.87 ±9.67 years. The majority of the patients (80%) were female. Thirty-four (56.66%) patients had PWS in the malar area, 14 (23.33%) on their forehead, 5 (8.33%) on their chin, and 7 (11.7%) on neck. The efficacy of the treatment through clearance score shows that the quantitative mean of the clearance score of the patients in the PDL method was 2.71 ±0.54, and in the CO2 + PDL method it was 2.72 ±0.56 ( > 0.05). The qualitative comparison of clearance scores indicated that in the PDL method, 18 (30%) patients had acceptable clearance, 30 (50%) patients had good clearance, and 12 (20%) patients had excellent clearance. Also, for the PDL plus CO method, 25 (41.766) patients had acceptable clearance, 23 (38.34%) patients had good clearance, and 12 (20%) patients had excellent clearance.
CONCLUSIONS
For PWS patients under treatment with PDL plus CO, the hyperpigmentation side effect was greater than in patients with underlying PDL only.
PubMed: 36457672
DOI: 10.5114/ada.2022.119073 -
The American Journal of Dermatopathology Oct 2017Port wine stain (PWS) is a congenital, progressive vascular malformation. Many patients with PWS develop hypertrophy and discrete nodularity during their adult life, but...
Port wine stain (PWS) is a congenital, progressive vascular malformation. Many patients with PWS develop hypertrophy and discrete nodularity during their adult life, but the mechanism(s) remain incompletely understood. In this study, we attempted to investigate activation status of PKCα, PI3K, PDPK1 and PLC-γ and protein levels of PP2A and DAG to explore their potential roles in the formation of hypertrophic and nodular PWS lesions. We found phosphorylated levels of PKCα, PI3K, PDPK1, and PLC-γ and protein levels of PP2A and DAG showed moderate increases in the endothelial cells of hypertrophic PWS as compared to the adjacent normal skin. These increases extended throughout the entire stroma of blood vessels in PWS nodules. Many proliferating cells, such as fibroblasts, also showed strong activation of PKCα, PI3K, PDPK1 and PLC-γ and upregulations of PP2A and DAG in nodular PWS lesions. Our data showed that there is aberrant activation of PKCα, PI3K, PDPK1 and PLC-γ and upregulation of PP2A and DAG mainly in endothelial cells in hypertrophic PWS areas, but presenting in the entire vasculatures and surrounding fibroblasts in PWS nodules. Our data suggest that both PKCα and PI3K signaling pathways contribute to the development of hypertrophy and nodularity in adult PWS.
Topics: Adult; Female; Humans; Hypertrophy; Male; Phosphatidylinositol 3-Kinases; Port-Wine Stain; Protein Kinase C-alpha
PubMed: 28030367
DOI: 10.1097/DAD.0000000000000785 -
Orphanet Journal of Rare Diseases Sep 2023Somatic mutations of cancer driver genes are found to be responsible for vascular malformations with clinical manifestations ranging from cutaneous birthmarks to...
BACKGROUND
Somatic mutations of cancer driver genes are found to be responsible for vascular malformations with clinical manifestations ranging from cutaneous birthmarks to life-threatening systemic anomalies. Till now, only a limited number of cases and mutations were reported in Chinese population. The purpose of this study was to describe the somatic mutation spectrum of a cohort of Chinese pediatrics with vascular malformations.
METHODS
Pediatrics diagnosed with various vascular malformations were collected between May 2019 and October 2020 from Beijing Children's Hospital. Genomic DNA of skin lesion of each patient was extracted and sequenced by whole-exome sequencing to identify pathogenic somatic mutations. Mutations with variant allele frequency less than 5% were validated by ultra-deep sequencing.
RESULTS
A total of 67 pediatrics (33 males, 34 females, age range: 0.1-14.8 years) were analyzed. Exome sequencing identified somatic mutations of corresponding genes in 53 patients, yielding a molecular diagnosis rate of 79.1%. Among 29 PIK3CA mutations, 17 were well-known hotspot p.E542K, p.E545K and p.H1047R/L. Non-hotspot mutations were prevalent in patients with PIK3CA-related overgrowth spectrum, accounting for 50.0% (11/22) of detected mutations. The hotspot GNAQ p.R183Q and TEK p.L914F mutations were responsible for the majority of port-wine stain/Sturge-Weber syndrome and venous malformation, respectively. In addition, we identified a novel AKT1 p.Q79K mutation in Proteus syndrome and MAP3K3 p.E387D mutation in verrucous venous malformation.
CONCLUSIONS
The somatic mutation spectrum of vascular malformations in Chinese population is similar to that reported in other populations, but non-hotspot PIK3CA mutations may also be prevalent. Molecular diagnosis may help the clinical diagnosis, treatment and management of these pediatric patients with vascular malformations.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Male; Class I Phosphatidylinositol 3-Kinases; East Asian People; Hemangioma; Mutation; Vascular Malformations
PubMed: 37658401
DOI: 10.1186/s13023-023-02860-w -
ClinicoEconomics and Outcomes Research... 2022Port-wine stains are congenital vascular abnormalities that impact children's and parents' quality of life (QoL). There are currently no established criteria for...
BACKGROUND
Port-wine stains are congenital vascular abnormalities that impact children's and parents' quality of life (QoL). There are currently no established criteria for assessing the quality of life in PWS patients. Utility measures such as willingness-to-pay (WTP) and time trade-off (TTO) can be used to quantify disease burden, impact on QoL, and assess the cost-effectiveness of interventions.
METHODS
This was a cross-sectional questionnaire-based survey study in Thailand from July 2021 to April 2022. The questionnaire included sociodemographic data and preference-based measurement, WTP and TTO. The primary outcome was a WTP and TTO for PWS laser treatment. The subsample analysis for the primary outcome was based on gender (male and female) and age (<5 years and ≥5 years). The household income was measured for time trade-off outcome.
RESULTS
Out of 46 respondents, WTP for the base case at 40% improvement cost 6109.01 baht per visit. Patients were willing to spend their time 9.95 hours per visit for a clinical improvement of 40%. Female was willing to pay and spend more time than male, while those aged≥5 years were willing to pay and spend more time than those aged <5 years. High household income >100k per month willing to spend less time than lower income groups.
CONCLUSION
There were obvious correlations between WTP and TTO with clinical outcomes. Utility indicators such as WTP and TTO can be used to measure disease burden, impact on QoL, and assess the cost-effectiveness of interventions. WTP and TTO could provide a more personalized approach to improving QoL, considering each patient's unique treatment plan and priority. This could help with patient uncertainty and long-term planning strategies to increase the QoL cost-effectively.
PubMed: 36171909
DOI: 10.2147/CEOR.S382735 -
Journal of the American Academy of... Nov 2014Port-wine stain (PWS) is a congenital, progressive vascular malformation but the pathogenesis remains incompletely understood.
BACKGROUND
Port-wine stain (PWS) is a congenital, progressive vascular malformation but the pathogenesis remains incompletely understood.
OBJECTIVE
We sought to investigate the activation status of various kinases, including extracellular signal-regulated kinase, c-Jun N-terminal kinase, AKT, phosphatidylinositol 3-kinase, P70 ribosomal S6 kinase, and phosphoinositide phospholipase C γ subunit, in PWS biopsy tissues.
METHODS
Immunohistochemistry was performed on 19 skin biopsy samples from 11 patients with PWS.
RESULTS
c-Jun N-terminal kinase, extracellular signal-regulated kinase, and P70 ribosomal S6 kinase in pediatric and adult PWS blood vessels were consecutively activated. Activation of AKT and phosphatidylinositol 3-kinase was found in many adult hypertrophic PWS blood vessels but not in infants. Phosphoinositide phospholipase C γ subunit showed strong activation in nodular PWS blood vessels.
LIMITATION
Infantile PWS sample size was small.
CONCLUSION
Our data suggest a subsequent activation profile of various kinases during different stages of PWS: (1) c-Jun N-terminal and extracellular signal-regulated kinases are firstly and consecutively activated in all PWS tissues, which may contribute to both the pathogenesis and progressive development of PWS; (2) AKT and phosphatidylinositol 3-kinase are subsequently activated, and are involved in the hypertrophic development of PWS blood vessels; and (3) phosphoinositide phospholipase C γ subunit is activated in the most advanced stage of PWS and may participate in nodular formation.
Topics: Adolescent; Adult; Blood Vessels; Child, Preschool; Extracellular Signal-Regulated MAP Kinases; Female; Humans; Infant; JNK Mitogen-Activated Protein Kinases; Male; Middle Aged; Phosphatidylinositol 3-Kinases; Phospholipase C gamma; Port-Wine Stain; Proto-Oncogene Proteins c-akt; Ribosomal Protein S6 Kinases, 70-kDa
PubMed: 25135651
DOI: 10.1016/j.jaad.2014.07.025 -
Indian Journal of Plastic Surgery :... Oct 2023Laser technology has significantly improved giving better results, which in turn has led to an increase in the indications for laser therapy. Vascular anomalies comprise...
Laser technology has significantly improved giving better results, which in turn has led to an increase in the indications for laser therapy. Vascular anomalies comprise vascular tumors and malformations. They are classified according to the type of vessels involved including arteries, capillaries, postcapillary venules, veins, lymphatic vessels, and a combination of two or more of these. Laser needs a chromophore to get absorbed and act. Hemoglobin, both oxy and deoxy, is one of the naturally occurring chromophore that is abundant in vascular lesions. Therefore, in most of the vascular lesions, lasers can bring improvement of a varying degree, while for superficial hemangiomas and port wine stain (PWS) laser treatment is now the standard of care. However, even though there is increase in the use of lasers in clinical practice, many surgeons are still unaware of its versatility and they are unsure about its safety. This article provides a brief overview of laser and intense pulsed light (IPL) technology, and describes the key principles in using these energy sources in vascular malformations. Readers are also familiarized with possible adverse effects and measures to prevent and treat them.
PubMed: 38026771
DOI: 10.1055/s-0043-1775871 -
Cureus Sep 2022Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome characterized by angiomas involving the face, eyes, and brain (leptomeninges). Classical port-wine...
Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome characterized by angiomas involving the face, eyes, and brain (leptomeninges). Classical port-wine stains are seen in the ophthalmic and maxillary division of the trigeminal nerve. The most common presenting feature is seizures, the onset of which ranges from birth to late adulthood. Diagnosis is mainly done by brain radio imaging (CT scan and MRI with gadolinium contrast) where characteristic features of calcification and leptomeningeal enhancement are seen. We report a newly diagnosed case of SWS in a 31-year-old female patient who presented to our hospital with a complaint of generalized tonic-clonic (GTCS) type of convulsion two days prior to the admission with purple discoloration of the skin on the right side of the face, trunk, and right upper limb since birth. During the evaluation of past medical history, the patient was found to have a known case of epilepsy since the age of three months and on was on irregular treatment. To find out the cause of the seizure and skin lesions, further investigations were done which were suggestive of SWS in MRI and CT scanning of the brain. The patient was counseled about the syndrome and discharged on anti-convulsion treatment with advice for dye laser photocoagulation for port-wine stain. SWS is a rare sporadic genetic disease and diagnosis is primarily done by evaluating history, the presence of port-wine stain, and characteristic features on brain radio imaging. As no definitive treatment is available yet, patients are being treated by medical and surgical interventions for symptoms as well as for associated complications.
PubMed: 36225423
DOI: 10.7759/cureus.28786 -
BMC Ophthalmology Dec 2020To evaluate the choroidal changes in Sturge-Weber syndrome (SWS) secondary glaucoma and non-glaucoma port-wine stain (PWS) patients by enhanced depth imaging optical...
Choroidal alterations of Sturge-Weber syndrome secondary glaucoma and non-glaucoma port-wine stain patients distinguished by enhanced depth imaging optical coherence tomography.
BACKGROUND
To evaluate the choroidal changes in Sturge-Weber syndrome (SWS) secondary glaucoma and non-glaucoma port-wine stain (PWS) patients by enhanced depth imaging optical coherence tomography (EDI-OCT).
METHODS
SWS and PWS patients who were over 3 years old and treated or screened at our ophthalmology department were included in the study. Baseline demographics, EDI-OCT and fundus photography data were collected from all patients.
RESULTS
Overall, 46 non-glaucoma PWS (NGPWS) patients and 35 SWS secondary glaucoma (SG) patients were included, with mean ages of 16.52 ± 13.63 and 13.94 ± 8.27 years, respectively (p > 0.05). Among these patients 2 exhibited bilateral PWS and unilateral glaucoma. Thus, the two eyes of each patient were divided into NGPWS and SG group, respectively. Twenty-one eyes had choroidal hemangiomas and 7 eyes had excessive thickening of the choroid without choroidal hemangiomas. Choroidal hemangiomas were only observed in ipsilateral eyes of SG patients. The choroidal thicknesses of the ipsilateral and fellow eyes of NGPWS patients were 358.10 ± 117.40 μm (45 eyes) and 288.20 ± 79.04 μm (41 eyes), respectively (p < 0.05). The choroidal thicknesses of the ipsilateral and fellow eyes of SG patients were 511.40 ± 242.10 μm (15 eyes) and 283.90 ± 92.27 μm (29 eyes), respectively (p < 0.05). Significant differences were found between the ipsilateral eyes of SWS and PWS patients (p < 0.05). Six of 13 eyes (46%) with choroidal hemangiomas exhibited post-operative posterior segment complications.
CONCLUSIONS
NGPWS and SG patients had a thicker choroid in the ipsilateral eye. The trend was even more pronounced in SG patients. Choroidal hemangiomas were only found in the ipsilateral eyes of SG. In addition, choroidal hemangioma was a risk factor for post-operative posterior segment complications in SWS patients.
Topics: Adolescent; Adult; Child; Child, Preschool; Choroid; Glaucoma; Humans; Port-Wine Stain; Sturge-Weber Syndrome; Tomography, Optical Coherence; Young Adult
PubMed: 33287757
DOI: 10.1186/s12886-020-01744-y -
Cureus Sep 2023As social media usage grows, more patients are turning to various platforms to gain and share medical information. One platform, TikTok, has become immensely popular,...
BACKGROUND
As social media usage grows, more patients are turning to various platforms to gain and share medical information. One platform, TikTok, has become immensely popular, with over one billion users. Despite its potential use as an educational tool, TikTok can be unreliable and misleading as a medical information source.
OBJECTIVE
We aim to discuss the information available on TikTok regarding laser treatment for port wine stains (PWS).
METHODS
Two independent reviewers analyzed 200 TikTok videos with the hashtags #portwinestainlaser or #portwinestaintreatment, examining the video creator's role (e.g., patient, parent, physician, or other), tone towards PWS and treatment options, and content (e.g., educational or non-educational, mention of any treatment risks).
RESULTS
Most videos were produced by non-medical professionals (83%), and only a small number discussed the potential adverse effects of PWS treatment options (15%).
CONCLUSION
While TikTok may have a role in educating patients about certain dermatologic conditions and treatment options, it is important to encourage patients to seek medical advice from a qualified medical professional before making any treatment decisions. Furthermore, the future of patient education may need to evolve to include social media platforms.
PubMed: 37842395
DOI: 10.7759/cureus.45119