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Case Reports in Pediatrics 2022Sturge-Weber syndrome is a rare congenital neurocutaneous disorder characterized by dermatological, ophthalmological, and neurological manifestations. It occurs due to...
Sturge-Weber syndrome is a rare congenital neurocutaneous disorder characterized by dermatological, ophthalmological, and neurological manifestations. It occurs due to abnormal persistence of embryonic vascular plexus. Here, we describe a case of four years seven months female with seizures, developmental delay, intellectual disability, and bilateral port-wine stain diagnosed as type I (classical) Sturge-Weber syndrome. The ophthalmological evaluation was unremarkable. Electroencephalogram showed abnormalities suggestive of a structural lesion in the right cerebral hemisphere. CT scan of the head revealed volume loss of right brain parenchyma with linear, cortical, as well as subcortical calcifications more evident in the right hemisphere. The child should be followed up regularly until adulthood for ophthalmological evaluation, recurrence of seizures, and other manifestations of this disorder.
PubMed: 35464665
DOI: 10.1155/2022/2191465 -
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 -
Investigative Ophthalmology & Visual... Apr 2020To evaluate episcleral vasculature in corneal limbus with optical coherence tomography angiography (OCTA) in normal controls, port-wine stain (PWS) patients, and... (Comparative Study)
Comparative Study
PURPOSE
To evaluate episcleral vasculature in corneal limbus with optical coherence tomography angiography (OCTA) in normal controls, port-wine stain (PWS) patients, and Sturge-Weber syndrome (SWS) patients.
METHODS
Unilateral eyes from 18 normal controls (25.41 ± 4.00 years), 16 PWS patients (21.35 ± 11.05 years), and 8 SWS patients with ipsilateral late-onset glaucoma (22.13 ± 7.82 years). Each subject underwent slit-lamp examination, applanation tonometry, and OCTA. All OCTA scans were performed using an OCTA system operating at a wavelength of 1050-nm in four quadrants (superior, inferior, nasal, and temporal). The scans were delineated into conjunctival and episcleral layers using IMAGEnet6 for analysis.
RESULTS
Slit-lamp and OCTA images demonstrated dense dilated episcleral vessels in PWS and SWS patients, particularly in the SWS group. The mean limbal involvements of episcleral vascular anomalies under slit lamp were respectively 0.00 ± 0.00, 5.44 ± 2.92, and 8.88 ± 2.70 clock hours in the control, PWS, and SWS groups (F = 58.46, P < 0.01). Quantitative analysis of OCTA scans showed that the episcleral vessel density in controls, PWS, and SWS groups were 25.03% ± 1.47%, 28.28% ± 1.96%, and 33.59% ± 3.00%, respectively (F = 18.17, P < 0.01). We also observed higher episcleral vessel diameter index in the SWS and PWS groups in comparison with the controls, particularly in the SWS group (P < 0.01). The vessel measurements, including density and diameter, were significantly correlated with the increased IOP and cup-to-disc (C/D) in SWS patients (P < 0.01).
CONCLUSIONS
To our knowledge, this is the first demonstration of OCTA in PWS and SWS patients and represents direct pathoanatomic evidence for episcleral alterations in SWS patients. The episcleral vessel measurements correlated with the increased IOP and C/D in SWS patients, indicating the episcleral vascular hypertrophy may be a risk factor for glaucoma in adult SWS patients.
Topics: Adolescent; Adult; Age Factors; Angiography; Case-Control Studies; Child; Female; Glaucoma; Humans; Male; Middle Aged; Monitoring, Physiologic; Pilot Projects; Port-Wine Stain; Prognosis; Reference Values; Risk Assessment; Severity of Illness Index; Sex Factors; Slit Lamp Microscopy; Sturge-Weber Syndrome; Tomography, Optical Coherence; Tonometry, Ocular
PubMed: 32343786
DOI: 10.1167/iovs.61.4.43 -
The British Journal of Dermatology Dec 2012Port-wine stain (PWS) birthmarks are one class of benign congenital vascular malformation. Laser therapy is the most successful treatment modality of PWS. Unfortunately,... (Review)
Review
Port-wine stain (PWS) birthmarks are one class of benign congenital vascular malformation. Laser therapy is the most successful treatment modality of PWS. Unfortunately, this approach has limited efficacy, with only 10% of patients experiencing complete blanching of the PWS. To address this problem, several research groups have developed technologies and methods designed to study treatment outcome and improve treatment efficacy. This article reviews seven optical imaging techniques currently in use or under development to assess treatment efficacy, focusing on: reflectance spectrophotometers/tristimulus colorimeters; laser Doppler flowmetry and laser Doppler imaging; cross-polarized diffuse reflectance colour imaging system; reflectance confocal microscopy; optical coherence tomography; spatial frequency domain imaging; and laser speckle imaging.
Topics: Diagnostic Imaging; Humans; Laser Therapy; Laser-Doppler Flowmetry; Port-Wine Stain; Severity of Illness Index; Treatment Outcome
PubMed: 22804872
DOI: 10.1111/j.1365-2133.2012.11139.x -
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 -
Photodiagnosis and Photodynamic Therapy Jun 2023Hemoporfin-mediated photodynamic therapy (Hemoporfin-PDT) has been approved for port-wine stain (PWS) in China in 2017. This study evaluated the efficacy and safety of...
BACKGROUND
Hemoporfin-mediated photodynamic therapy (Hemoporfin-PDT) has been approved for port-wine stain (PWS) in China in 2017. This study evaluated the efficacy and safety of Hemoporfin-PDT for PWS in a real life setting and investigated factors that influence the efficacy.
METHODS
A multicenter retrospective study included patients with PWS who underwent Hemoporfin-PDT in 29 hospitals across China and completed at least two months of follow-up. The efficacy was evaluated based on patien photographs.
RESULTS
A total of 1679 patients were included. After the first and second sessions of Hemoporfin-PDT, 63.5 and 75.3% of patients responded, respectively. The response rate of purple-type PWS was significantly lower than that of pink-type PWS (OR: 0.71, 95% CI: 0.54-0.94, P < 0.05), and there was no significant difference between thick- and pink-type (OR: 0.72, 95% CI: 0.42-1.22, P > 0.05). The response rate of PWS on the limbs was significantly lower than that on the mid-face (OR: 0.35, 95% CI: 0.23-0.53, P < 0.0001), while no significant difference was observed between PWS on the peripheral part of the face, neck or other parts of the body and PWS on the mid-face (P > 0.05). The response rate was lower in male patients with an age > 3 years or ≤ 6 years (P < 0.05). Previous treatment history did not affect the efficacy (P > 0.05). Hemoporfin-PDT was well tolerated.
CONCLUSION
Patients with PWS have a good response and good tolerance to Hemoporfin-PDT.
Topics: Humans; Male; Child, Preschool; Photochemotherapy; Port-Wine Stain; Photosensitizing Agents; Retrospective Studies; Hematoporphyrins
PubMed: 37001715
DOI: 10.1016/j.pdpdt.2023.103545 -
Indian Journal of Dermatology 2020Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital disorder characterized by asymmetric limb hypertrophy, usually of the lower limbs, as well as vascular...
Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital disorder characterized by asymmetric limb hypertrophy, usually of the lower limbs, as well as vascular anomalies and capillary malformations under the skin, termed as port-wine stain. KTWS is prevalent in all parts of the world. It has a high degree of diversity of the associated malformations. In the present case, vascular/lymphatic malformations were evident by the presence of bilateral port-wine stain and lymphangioma. More interestingly, prominent aberrant veins (truncal varicosities) were found in the anterior chest wall, together with the presence of multiple angiolipomatosis. Bone deformities were more than limb hypertrophy and macrodactyly and extended to spinal deformities in the form of scoliotic changes.
PubMed: 33487708
DOI: 10.4103/ijd.IJD_355_18 -
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 -
Chinese Medical Journal Nov 2022
Topics: Humans; Port-Wine Stain; Hemangioma, Capillary
PubMed: 36583915
DOI: 10.1097/CM9.0000000000002124 -
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