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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 -
Journal of the European Academy of... Jun 2024Pulsed dye lasers (PDL) are currently the first-line treatment of port-wine birthmarks (PWB). Due to high maintenance costs and instable technology, alternative methods... (Randomized Controlled Trial)
Randomized Controlled Trial Comparative Study
BACKGROUND
Pulsed dye lasers (PDL) are currently the first-line treatment of port-wine birthmarks (PWB). Due to high maintenance costs and instable technology, alternative methods are needed.
OBJECTIVES
To compare clinical outcomes of a variable-sequenced, long-pulsed 532-nm potassium titanyl-phosphate (KTP) laser and PDL on treating PWB.
METHODS
A prospective, randomized, split-side study. Patients were treated with a KTP laser and PDL with 1 to 5 sessions at intervals of 6-8 weeks. A follow-up visit was scheduled 6 weeks post-treatment. Efficacy was evaluated through colorimetric analysis, area reduction measurements and clinical evaluations by two blinded investigators based on photo documentation. Subjects provided rating of pain intensity during treatment, post-treatment reactions and satisfaction. Safety was measured by adverse events. Maintenance issues of the laser systems were documented.
RESULTS
A total of 35 patients (mean age 42.1 years) were enrolled. 63% were female. Patients received 2.4 (SD 1.4; 1-5) treatment sessions. Colorimetric analysis indicated a comparable clearance effect in PWB of both KTP laser and PDL. Independent investigators rated clinical appearance to be significantly improved compared to baseline. No significant difference was observed between both laser systems. Regarding post-treatment reactions, the KTP laser caused less swelling, purpura and crusts. 96% would recommend both treatment modalities. Patients were satisfied with both laser systems. During the study, PDL systems malfunctioned for 6.6 months in total. For the KTP laser, we did not observe any system failures.
CONCLUSION
Our data indicate that the KTP laser of the latest generation with large-spot sizes, subpulse technology and cryogen cooling has a comparable efficacy to the PDL in treating PWB. In addition, KTP laser is associated with greater tolerability, fewer technical failures and lower repair costs. Further prospective studies are required to determine the true effectiveness of the KTP laser in PWB treatment. This study was preregistered in Clinicaltrials.gov (NCT05771298).
Topics: Humans; Female; Lasers, Solid-State; Male; Prospective Studies; Adult; Lasers, Dye; Port-Wine Stain; Middle Aged; Young Adult; Patient Satisfaction
PubMed: 38794945
DOI: 10.1111/jdv.19750 -
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 -
BMJ Case Reports May 2024We describe an early adolescent male who was diagnosed with vascular malformation associated with unilateral limb overgrowth based on the clinical findings of a...
We describe an early adolescent male who was diagnosed with vascular malformation associated with unilateral limb overgrowth based on the clinical findings of a persistent port-wine stain since birth and gradually progressing right lower limb oedema since early childhood. Clinicians should keep in mind to clinically evaluate such malformations in detail, as well as contemplate genetic testing in patients presenting with a large port-wine stain at birth, particularly if well demarcated and lateral in a lower extremity.
Topics: Humans; Male; Adolescent; Edema; Lower Extremity; Port-Wine Stain
PubMed: 38702071
DOI: 10.1136/bcr-2023-258892 -
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 -
JAMA Ophthalmology Jun 2024
Topics: Humans; Sturge-Weber Syndrome; Choroid Neoplasms; Sirolimus; Administration, Oral; Hemangioma; Female; Male; Fluorescein Angiography; Immunosuppressive Agents
PubMed: 38635233
DOI: 10.1001/jamaophthalmol.2024.0854 -
JAMA Dermatology Jun 2024Early treatment of port-wine birthmark (PWB) can be life-altering and is often associated with improved outcomes and quality of life. There is growing evidence that...
IMPORTANCE
Early treatment of port-wine birthmark (PWB) can be life-altering and is often associated with improved outcomes and quality of life. There is growing evidence that shorter treatment intervals may play a role in more rapid PWB clearance; however, the optimal treatment interval has not been established.
OBJECTIVE
To describe the outcomes of once-weekly pulsed dye laser (PDL) treatments for PWB in infants.
DESIGN, SETTING, AND PARTICIPANTS
This case series analyzed the medical records of patients with PWB who received once-weekly PDL treatments between January 1, 2022, and December 31, 2023, at the Laser & Skin Surgery Center of New York. These patients were younger than 6 months. Before-and-after treatment photographs were independently assessed and graded 2 months after initiation of treatment.
INTERVENTION
Once-weekly PDL treatments.
MAIN OUTCOMES AND MEASURES
The primary outcome was the percentage improvement of PWB, which was graded using the following scale: 0% (no improvement), 1% to 25% (mild improvement), 26% to 50% (moderate improvement), 51% to 75% (marked improvement), 76% to 95% (near-total clearance), and 96% to 100% (total clearance).
RESULTS
Of the 10 patients (6 males [60%]; median [range] age at first treatment, 4 [<1 to 20] weeks) included, 7 (70%) had experienced either near-total clearance (76%-95%) or total clearance (96%-100%) of their PWB with once-weekly PDL treatments after 2 months. The other 3 patients all saw marked improvement (51%-75%) and subsequently went on to achieve near-total clearance with additional treatments. The median (range) duration of treatment and number of treatments to achieve near-total or total clearance in all patients were 2 (0.2-5.1) months and 8 (2-20) treatments, respectively. No adverse events were noted.
CONCLUSION AND RELEVANCE
This case series found that once-weekly PDL treatments for PWB in the first few months of life was associated with near-total or total clearance of PWB with no reported adverse events, suggesting improved outcomes can be achieved with shorter overall treatment duration. Further investigation into this novel decreased treatment interval of 1 week is warranted.
Topics: Humans; Port-Wine Stain; Lasers, Dye; Infant; Male; Female; Treatment Outcome; Retrospective Studies; Infant, Newborn; Time Factors; Quality of Life; Low-Level Light Therapy
PubMed: 38630490
DOI: 10.1001/jamadermatol.2024.0293 -
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