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Annals of Medicine and Surgery (2012) Jun 2024Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder characterized by a facial port-wine birthmark, leptomeningeal angiomatosis, and glaucoma. This case report...
BACKGROUND
Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder characterized by a facial port-wine birthmark, leptomeningeal angiomatosis, and glaucoma. This case report highlights the challenges of diagnosing SWS when presenting with atypical features. Here, the authors present a 55-year-old man with an extrafacial port-wine stain and delayed-onset seizures, deviating from the classic triad.
CASE PRESENTATION
A 55-year-old man presented with a recent seizure and a characteristic port-wine birthmark extending beyond the typical facial region. Neurological examination revealed no weakness, speech difficulties, or coordination problems. Ophthalmological examination didn't reveal glaucoma. Limited resources restricted access to advanced imaging like MRI scans. However, based on the constellation of clinical findings, including the facial birthmark with angiomatosis and the new-onset seizure, the patient received a diagnosis of SWS. Treatment with Levetiracetam was initiated to prevent future seizures, and patient education on managing diabetes and hypertension was provided.
CLINICAL DISCUSSION
This case underscores the importance of considering SWS in diagnosing adult-onset seizures, especially with a characteristic facial birthmark. The delayed presentation and isolated seizure suggest potentially less severe brain involvement. Resource limitations necessitated a clinical diagnosis and treatment with readily available medications.
CONCLUSION
This case highlights the challenges of diagnosing atypical SWS presentations. Early diagnosis is crucial for prompt management and improved patient outcomes. Future research should focus on developing robust diagnostic tools and exploring novel treatment options for atypical SWS presentations.
PubMed: 38846877
DOI: 10.1097/MS9.0000000000002049 -
Indian Journal of Dermatology,... Apr 2024Port wine stain (PWS) is a congenital vascular malformation that commonly occurs on the face and neck. Currently, the main treatments for port wine stain are pulsed dye... (Review)
Review
Port wine stain (PWS) is a congenital vascular malformation that commonly occurs on the face and neck. Currently, the main treatments for port wine stain are pulsed dye laser (PDL) and photodynamic therapy (PDT). However, the efficacy evaluation of PWS mostly relies on the subjective judgement of clinicians, and it is difficult to accurately respond to many small changes after treatment. Therefore, some non-invasive and efficient efficacy assessment methods are also needed. With the continuous development of technology, there are currently many visualisation instruments to evaluate PWS, including dermoscopy, VISIA-CR™ system, reflectance confocal microscopy (RCM), high-frequency ultrasound (HFUS), optical coherence tomography (OCT), Photoacoustic imaging (PAI), laser speckle imaging (LSI) and laser Doppler imaging (LDI). Among them, there are simple and low-cost technologies such as dermoscopy and the VISIA-CR™ system, but they may not be able to observe the deeper structures of PWS. At this time, combining techniques such as HFUS and OCT to increase penetration depth is crucial to evaluate PWS. In the future, the combination of these different technologies could help overcome the limitations of a single technology. This article provides a systematic overview of non-invasive methods for evaluating treatment efficacy in port wine stains and summarises their advantages and disadvantages.
PubMed: 38841964
DOI: 10.25259/IJDVL_985_2023 -
Indian Journal of Dermatology 2024
PubMed: 38841232
DOI: 10.4103/ijd.ijd_517_23 -
Photodiagnosis and Photodynamic Therapy Jun 2024Hemoporfin-mediated photodynamic therapy (HMME-PDT) has been recognized as a safe and effective treatment for port wine stain (PWS). However, some patients show limited...
SIGNIFICANCE
Hemoporfin-mediated photodynamic therapy (HMME-PDT) has been recognized as a safe and effective treatment for port wine stain (PWS). However, some patients show limited improvement even after multiple treatments. Herein, we aim to explore the effect of autophagy on HMME-PDT in human umbilical vein endothelial cells (HUVECs), so as to provide theoretical basis and treatment strategies to enhance clinical effectiveness.
METHODS
Establish the in vitro HMME-PDT system by HUVECs. Apoptosis and necrosis were identified by Annexin Ⅴ-FITC/PI flow cytometry, and autophagy flux was detected by monitoring RFP-GFP-LC3 under the fluorescence microscope. Hydroxychloroquine and rapamycin were employed in the mechanism study. Specifically, the certain genes and proteins were qualified by qPCR and Western Blot, respectively. The cytotoxicity was measured by CCK-8, VEGF-A secretion was determined by ELISA, and the tube formation of HUVECs was observed by angiogenesis assay.
RESULTS
In vitro experiments revealed that autophagy and apoptosis coexisted in HUVECs treated by HMME-PDT. Apoptosis was dominant in early stage, while autophagy gradually increased in the middle and late stage. AMPK, AKT and mTOR participated in the regulation of autophagy induced by HMME-PDT, in which AMPK was positive regulation, while AKT and mTOR were negative regulation. Hydroxychloroquine could not inhibit HMME-PDT-induced autophagy, but capable of blocking the fusion of autophagosomes with lysosome. Rapamycin might cooperate with HMME-PDT to enhance autophagy in HUVECs, leading to increased cytotoxicity, reduced VEGF-A secretion, and weakened angiogenesis ability.
CONCLUSIONS
Both autophagy and apoptosis contribute to HMME-PDT-induced HUVECs death. Pretreatment of HUVECs with rapamycin to induce autophagy might enhance the photodynamic killing effect of HMME-PDT on HUVECs. The combination of Rapamycin and HMME-PDT is expected to further improve the clinical efficacy.
Topics: Humans; Human Umbilical Vein Endothelial Cells; Photochemotherapy; Autophagy; Photosensitizing Agents; Apoptosis; Sirolimus; Hydroxychloroquine; Porphyrins; Vascular Endothelial Growth Factor A
PubMed: 38710260
DOI: 10.1016/j.pdpdt.2024.104196 -
Sichuan Da Xue Xue Bao. Yi Xue Ban =... Mar 2024Port-wine stains are a kind of dermatological disease of congenital capillary malformation. Based on the biological characteristics of port-wine stains and the...
OBJECTIVE
Port-wine stains are a kind of dermatological disease of congenital capillary malformation. Based on the biological characteristics of port-wine stains and the advantages of microneedle transdermal administration, we intend to construct a nanodrug co-loaded with rapamycin (RPM), an anti-angiogenesis drug, and photochlor (HPPH), a photosensitizer, and integrate the nanodrug with dissolvable microneedles (MN) to achieve anti-angiogenesis and photodynamic combination therapy for port-wine stains.
METHODS
First, RPM and HPPH co-loaded nanoparticles (RPM-HPPH NP) were prepared by the emulsification solvent-volatilization method, and its ability to generate reactive oxygen species (ROS) was investigated under 660 nm laser irradiation. Mouse hemangioendothelioma endothelial cells (EOMA) were used as the subjects of the study. The cellular uptake behaviors were examined by fluorescence microscopy and flow cytometry. The cytotoxicity effects of RPM-HPPH NP with or without 660 nm laser irradiation on EOMA cells were examined by MTT assays (with free RPM serving as the control). Then, hyaluronic acid (HA) dissolvable microneedles loaded with RPM-HPPH NP (RPM-HPPH NP@HA MN) were obtained by compounding the nanodrug with HA dissolvable microneedle system through the molding method. The morphological characteristics and mechanical properties of RPM-HPPH NP@HA MN were investigated by scanning electron microscope and electronic universal testing machine. The penetration ability of RPM-HPPH NP@HA MN on the skin of nude mice was evaluated by trypan blue staining and H&E staining experiment.
RESULTS
The RPM-HPPH NP prepared in the study had a particle size of 150 nm and generated large amounts of ROS under laser irradiation. At the cellular level, RPM-HPPH NP was taken up by EOMA cells in a time-dependent manner. The cytotoxicity of RPM-HPPH NP was higher than that of free RPM with or without laser irradiation. Under laser irradiation, RPM-HPPH NP exhibited stronger cytotoxic effects and the difference was statistically significant (<0.05). The height of the needle tip of RPM-HPPH NP@HA MN was 600 µm and the mechanical property of a single needle was 0.75048 N. Trypan blue staining and HE staining showed that pressing on the microneedles could produce pores on the skin surface and penetration of the stratum corneum.
CONCLUSION
RPM-HPPH NP@HA MN can deliver RPM-HPPH NP percutaneously to the lesion tissue and realize the synergistic treatment of port-wine stains with anti-angiogenic therapy and photodynamic therapy, providing a new strategy for the construction of nanodrug-loaded microneedle delivery system and the clinical treatment of port-wine stains.
Topics: Animals; Mice; Needles; Nanoparticles; Port-Wine Stain; Sirolimus; Photosensitizing Agents; Administration, Cutaneous; Photochemotherapy; Reactive Oxygen Species; Endothelial Cells; Drug Delivery Systems; Angiogenesis Inhibitors; Hemangioendothelioma
PubMed: 38645856
DOI: 10.12182/20240360209 -
Photodiagnosis and Photodynamic Therapy Apr 2024Port-wine stain (PWS) birthmarks are congenital capillary malformations occurring in 0.3 %∼0.5 % of newborns. Hemoporfin-mediated vascular-acting photodynamic therapy... (Comparative Study)
Comparative Study
Port-wine stain (PWS) birthmarks are congenital capillary malformations occurring in 0.3 %∼0.5 % of newborns. Hemoporfin-mediated vascular-acting photodynamic therapy (Hemoporfin PDT) is an emerging option for treating PWS. This in vivo study aimed to compare laser and light-emitting diodes (LED) as light source for Hemoporfin PDT. Chicken wattles were used as the animal model. Color and histopathological changes were evaluated after combining Hemoporfin with KTP laser or LED light source of 532 nm at the same doses. Both PDT approaches could induce significant vascular injury and color bleaching. Although the use of the laser resulted in a greater vascular clearance, the LED showed more uniform distribution both in the beam profiles and tissue reaction and exhibited better safety. This in vivo study suggests that the LED is a favorable choice for larger PWS lesion.
Topics: Animals; Port-Wine Stain; Chickens; Photochemotherapy; Photosensitizing Agents; Hematoporphyrins; Lasers, Solid-State; Disease Models, Animal
PubMed: 38598961
DOI: 10.1016/j.pdpdt.2024.104068 -
Photodiagnosis and Photodynamic Therapy Apr 2024Vascular-targeted photodynamic therapy (V-PDT) is a clinically approved therapeutic approach for treating vascular-related diseases, such as port-wine stains (PWS). For...
SIGNIFICANCE
Vascular-targeted photodynamic therapy (V-PDT) is a clinically approved therapeutic approach for treating vascular-related diseases, such as port-wine stains (PWS). For accurate treatment, varying light irradiance is required for different lesions due to the irregularity of vascular size, shape and degree of disease, which commonly alters during different stages of V-PDT. This makes quantitative analysis of the treatment efficiency urgently needed.
APPROACH
Lesion images pre- and post- V-PDT treatment of patients with PWS were used to construct a quantitative method to evaluate the differences among lesions. Image analysis techniques were applied to evaluate the V-PDT efficiency for PWS by determining the Euclidean distances and two-dimensional correlation coefficients.
RESULTS
According to the image analysis, V-PDT with good treatment efficiency resulted in a larger Euclidean distance and a smaller correlation coefficient compared with the case having lower V-PDT efficiency.
CONCLUSIONS
A new method to quantify the Euclidean distances and correlation coefficients has been proposed, which is promising for the quantitative analysis of V-PDT efficiency for PWS.
Topics: Port-Wine Stain; Photochemotherapy; Humans; Photosensitizing Agents; Female; Male; Adult; Aminolevulinic Acid; Child; Adolescent
PubMed: 38588873
DOI: 10.1016/j.pdpdt.2024.104081 -
Photodiagnosis and Photodynamic Therapy Apr 2024Two cases of acquired port-wine stain (APWS) at lower extremity were treated with hematoporphyrin monomethyl ether (HMME) and 532 nm LED green light-mediated...
Two cases of acquired port-wine stain (APWS) at lower extremity were treated with hematoporphyrin monomethyl ether (HMME) and 532 nm LED green light-mediated photodynamic therapy (HMME-PDT). No serious adverse reactions were observed during or post-treatment period. Five-month follow-up showed significant reduction of red patches after a single HMME-PDT treatment in both cases.
Topics: Hematoporphyrins; Humans; Photochemotherapy; Port-Wine Stain; Photosensitizing Agents; Male; Female; Adult; Lower Extremity
PubMed: 38431025
DOI: 10.1016/j.pdpdt.2024.104032 -
Photodiagnosis and Photodynamic Therapy Apr 2024Portwine stain (PWS) birthmarks are congenital vascular malformations. The quantification of PWS area is an important step in lesion classification and treatment...
BACKGROUND
Portwine stain (PWS) birthmarks are congenital vascular malformations. The quantification of PWS area is an important step in lesion classification and treatment evaluation.
AIMS
The aim of this study was to evaluate the combination of 3D scan with deep learning for automated PWS area quantization.
MATERIALS AND METHODS
PWS color was measured using a portable spectrophotometer. PWS patches (29.26-45.82 cm) of different color and shape were generated for 2D and 3D PWS model. 3D images were acquired by a handheld 3D scanner to create texture maps. For semantic segmentation, an improved DeepLabV3+ network was developed for PWS lesion extraction from texture mapping of 3D images. In order to achieve accurate extraction of lesion regions, the convolutional block attention module (CBAM) and DENSE were introduced and the network was trained under Ranger optimizer. The performance of different backbone networks for PWS lesion extraction were also compared.
RESULTS
IDeepLabV3+ (Xception) showed the best results in PWS lesion extraction and area quantification. Its mean Intersection over Union (MIou) was 0.9797, Mean Pixel Accuracy (MPA) 0.9908, Accuracy 0.9989, Recall 0.9886 and F1-score 0.9897, respectively. In PWS area quantization, the mean value of the area error rate of this scheme was 2.61 ± 2.33.
CONCLUSIONS
The new 3D method developed in this study was able to achieve accurate quantification of PWS lesion area and has potentials for clinical applications.
Topics: Humans; Deep Learning; Imaging, Three-Dimensional; Port-Wine Stain; Face; Spectrophotometry
PubMed: 38423233
DOI: 10.1016/j.pdpdt.2024.104030 -
Cureus Jan 2024Klippel-Trenaunay syndrome (KTS) is a rare genetic syndrome comprising an abnormal development of soft tissues and the lymphovascular system with bony overgrowth, venous...
Klippel-Trenaunay syndrome (KTS) is a rare genetic syndrome comprising an abnormal development of soft tissues and the lymphovascular system with bony overgrowth, venous malformation, and port wine stains. We present an interesting case of a three-year-old child brought to our hospital with a swollen limb and raised skin lesions associated with bleeding from minor trauma. Most of the clinical characteristics of KTS were seen in our patient, including arteriovenous, soft tissue, capillary, and lymphatic abnormalities. The diagnosis of KTS is based on clinical examinations and imaging investigations. He had gross hypertrophy of the left lower limb with measurable lengthening compared to the opposite limb. Ultrasonography of the left limb revealed soft tissue hypertrophy with abnormal venous communication. The management of KTS is mainly symptomatic and should be approached conservatively if the patient has functional limbs without edema, bleeding, ulceration, or pain.
PubMed: 38361716
DOI: 10.7759/cureus.52361