Search Results (21)

Background: Vascular malformations (VAMs) impose multifaceted burdens extending beyond physical impairments to psychosocial dysfunction. While prior studies predominantly utilized generic quality-of-life instruments, disease-specific tools are critical for addressing heterogeneous symptom profiles and sociocultural variability, particularly in understudied Asian populations. This study investigated psychosocial impacts across pediatric and adult VAM patients via validated, condition-specific measures. Methods: A prospective cohort of 233 hospitalized VAM patients (114 pediatric patients, 119 adult patients) completed the OVAMA questionnaire, and 114 adult, 68 pediatric patients, and 115 parent-proxies completed corresponding PROMIS questionnaires. The subtypes included arteriovenous malformations (AVMs), venous/lymphatic/lymphovenous malformations (VMs/LMs/LVMs), port-wine stains (PWSs), and other vascular malformations. Statistical analyses (Mann–Whitney U test, Kruskal–Wallis test, linear regression) were used to evaluate associations between demographics, clinical characteristics, and psychosocial outcomes. Results: Compared with children, adults reported significantly greater distress related to general (p = 0.004) and appearance (p = 0.003) problems. Compared with AVM (p = 0.01) and PWS (p = 0.041) patients, VM/LM/LVM patients presented elevated general problem scores. Pain and bleeding were related to general problems, whereas temporary enlargement was related togeneral and appearance problems. The PROMIS results revealed that 42.1% of adults had below-normal psychosocial-positive scores, whereas 33% demonstrated abnormal psychosocial-negative scores. Pediatric self-reports were associated with higher anxiety and depression rates than parent proxies were, with the VM/LM/LVM subgroups reporting poorer family relationships (p = 0.0062) and life purposes (p = 0.0075). Treatment frequency was correlated with increased psychological stress in children (p = 0.007). Conclusion: VAMs significantly impair psychosocial functioning across all ages, with adults experiencing heightened distress and social role deficits. Pediatric patients with low-flow malformations (VMs/LMs/LVMs) face compound depressive symptoms and familial strain. Disease-specific tools such as OVAMA and PROMIS are essential for comprehensive assessments, guiding tailored interventions to address both physical and psychosocial burdens. Full article

Port-wine stain (PWS), a progressive congenital vascular malformation characterized by ectatic dermal capillaries, demonstrates age-dependent lesion expansion and chromatic intensification, resulting in significant psychosocial comorbidity. While systemic hematoporphyrin (HP) administration remains the clinical paradigm for photodynamic therapy (PDT), its therapeutic utility is severely constrained by non-targeted biodistribution. Pharmacokinetic analyses reveal prolonged dermal retention and suboptimal lesion accumulation, predisposing 42% of patients to phototoxic reactions. To address these limitations, this work creatively suggested a local targeted drug delivery method based on soluble microneedles in response to the difficulties mentioned above. The rational design of a molecular weight (MW) HA gradient system enabled the engineering of ternary nanocomposite microneedles with enhanced biomechanical integrity (0.49 N/needle) and superior HP loading capacity, which collectively facilitated spatiotemporally controlled transdermal delivery of hematoporphyrin with complete dissolution within 30 min. The release performance, skin permeability, and storage stability of hematoporphyrin dissolving microneedles (HP-DMNs) have all been demonstrated in vitro. This study applies soluble microneedle technology to the delivery of HP in PWS for the first time. It avoids the risk of systemic exposure through precise local administration. It uses the rapid dissolution properties of microneedles to achieve high concentration and rapid release of drugs in skin lesions. This study provides a new strategy for sustained intralesional release and rapid drug delivery treatment of PWS and provides novel ideas for the development of new formulations of HP and related photosensitizers. Full article

Sturge–Weber Syndrome (SWS) is a rare neurocutaneous disorder caused by a somatic nonsynonymous mosaic mutation most commonly in the GNAQ gene (G protein guanine Nucleotide-binding protein Alpha subunit q). SWS is characterized by capillary-venous malformations in the brain and eyes and a characteristic facial port wine (PW) birthmark (previously called port wine stain/PWS) in the head/neck region. Clinical manifestations vary and include epilepsy, stroke-like episodes, migraine headaches, cognitive delays, glaucoma, ocular vascular anomalies, heterochromia of the iris, visual field defects, and endocrine disorders like growth hormone deficiency or central hypothyroidism. The pathognomonic findings seen in neuroimaging with magnetic resonance imaging (MRI) include the presence of unilateral intracranial leptomeningeal angiomatosis, typically ipsilateral to the facial birthmark. SWS does not currently have a definitive cure, and management strategies focus on symptomatic management such as anti-seizure medications, limited surgical resection of the epileptogenic tissue or hemispherectomy for cases of drug-resistant epilepsy (DRE), selective photo-thermolysis of the PWS using a pulsed dye laser, and the medical and/or surgical management of glaucoma. In addition to these symptomatic treatments, the use of preventive, modifying, or stabilizing treatments like low-dose aspirin in reducing the frequency and severity of seizures and stroke-like events and the use of newer therapies like cannabidiols and mTOR inhibitors are being reviewed and have shown promising early results. This comprehensive narrative review summarizes the current literature on clinical management strategies, ongoing research studies, and future directions in the diagnosis and management of SWS. Full article

Background/Objectives: Port-wine stains (PWSs), also known as naevus flammeus or capillary malformations, are congenital cutaneous lesions, typically located in the head/neck area. The manifestations of PWSs include aesthetic and functional impairments due to soft and hard tissue modifications. Sturge–Weber syndrome is characterised by additional neuro-ocular manifestations. This systematic review aimed to identify and overview the orodental manifestations of PWSs. Methods: Several databases (PubMed, Web of Science, Scopus, Embase, Cochrane Library) were searched using keywords for PWSs and oral and dental manifestations. The results were centralised, deduplicated, and selected in a two-step sequence. Data were extracted using pre-defined extraction forms and represented graphically and tabulated. The Newcastle–Ottawa and Joanna Briggs Institute scales were used for quality assessment. Results: Out of 884 results, 43 studies were selected for inclusion. Eleven studies investigated patients diagnosed with PWSs, while thirty-two studies investigated SWS patients. Regarding study designs, eight studies were retrospective, one was cross-sectional, two were case series, and thirty-two were case reports. The most frequently mentioned manifestations were gingival hypertrophy, lip hypertrophy, mucosal or gingival staining, malocclusion, gingivitis or gingival bleeding, and facial asymmetry. Conclusions: Due to the rarity of this pathology, the orodental manifestations of PWSs are not widely known to dentists. Soft tissue hypertrophy, malocclusion, and bony hypertrophy are significant concerns that need to be addressed during treatment. Full article

Cosmetic dermatology increasingly utilizes laser technologies to address various aesthetic concerns. This study evaluates the efficacy of the flash-lamp pulsed-dye laser (FPDL) in treating vascular and scar-related conditions. A cohort of 71 patients with diverse vascular lesions, including facial telangiectasia, port-wine stains (PWSs), striae rubrae, erythematous acne scars, facial traumatic scars, and keloids, was treated using the FPDL (Synchro Vas-Q, Deka MELA). Treatment protocols varied based on lesion type, with sessions ranging from one to eight at intervals of four to eight weeks. Clinical outcomes were assessed using a four-point grading scale and patient satisfaction surveys. Results indicated that 70.4% of patients achieved excellent clearance of lesions, while 16.9% and 9.9% showed moderate-good and slight clearance, respectively. Minimal or no improvement was observed in 2.8% of cases. High patient satisfaction was reported, correlating with effective lesion reduction and manageable side effects, primarily post-operative purpura. The study underscores FPDL’s selective efficacy for hemoglobin-rich lesions and its safety profile, advocating for its continued use in cosmetic dermatological practices. These findings contribute to the growing evidence supporting laser therapy as a pivotal tool in aesthetic medicine, emphasizing the importance of tailored treatment protocols and patient education for optimal outcomes. Full article

The Koebner phenomenon (KP), also known as the isomorphic response, describes the process by which new lesions that are clinically and histologically identical to a patient’s existing skin disease develop following trauma. Many skin diseases exhibit this characteristic, with variations that include possible, questionable, and pseudo-Koebner reactions, with the latter category occurring due to infectious agents seeding at a trauma site. Laser application, a type of controlled skin injury used for improving cutaneous lesions and skin rejuvenation, is also considered a form of trauma. This raises the question of whether controlled thermal injury can be regarded as a type of mechanical trauma capable of producing Koebner-related reactions. We conducted a literature review of cases or studies to identify laser-induced dermatoses that correspond to Koebner-related or pathergy reaction categories. As a whole, we identified nine case reports on true KPs, two cases on possible KPs, seventeen cases on laser-induced questionable KPs comprising cases of vasculitis, eczema or Meyerson reactions, and eruptive squamous atypia cases (ESA) as well as two pseudo-Koebner cases involving wart occurrences at laser application sites. Laser-induced Koebner reactions highlight several aspects of the KP. Firstly, the type of mechanical damage influences disease promotion, as different lasers are associated with different KPs. For example, hair removal lasers are linked with true and questionable KPs such as vasculitis while resurfacing lasers were found to be more connected with ESA occurrence. Secondly, the laser target is significant, with vascular laser application for port-wine stains tending to result in eczematous reactions, while hair follicle destruction can frequently lead to true KPs. Thirdly, the number of sessions matters; true KPs and eruptive squamous atypia questionable KPs typically appear after one to two sessions, whereas eczematous reactions require more sessions (at least four). Additionally, skin phototype is crucial, with darker phototypes showing a higher KP frequency as laser treatment for hypertrichosis relies on melanin absorption in the hair bulge or bulb for follicle destruction, as chromophore competes with the abundant melanin in the epidermis. Further research with larger-scale studies into trauma-specific Koebner reactions is vital for refining treatment protocols, minimizing post-laser adverse effects, and improving dermatological care outcomes. Full article

Photothermolysis is the process that converts radiation energy into thermal energy, which results in the destruction of surrounding tissues or cells through thermal diffusion. Laser therapy that is based on photothermolysis has been a widely used treatment for various skin diseases such as skin cancers and port-wine stains. It offers several benefits such as non-invasiveness and selective treatment. However, the use of light, e.g., laser, for safe and effective photothermolysis becomes challenging due to the limited penetration of light into skin tissue as well as the presence of melanin, which absorbs this light. To solve the current issues, we propose an optical microneedle–lens array (OMLA) coated with gold in this work to directly deliver light to targeted skin layers without being absorbed by surrounding tissues as well as melanin, which results in the improvement of the efficiency of photothermal therapy. We developed a novel fabrication method, frame-guided micromolding, to prepare the OMLA by assembling two negative molds with simultaneous alignment. In addition, evaluations of the optical and heat transfer characteristics of the OMLA were performed. We expect our developed OMLA to play a crucial role in realizing more effective laser therapy by allowing the precise delivery of photons to the target area. Full article

Klippel–Trenaunay syndrome (KTS) is a very rare vascular malformation syndrome also referred to as a capillary–lymphatic–venous malformation with unknown aetiology. The aim of our paper is to highlight interesting images, regarding a rare case of foetal Klippel–Trenaunay syndrome diagnosed prenatally in our department and confirmed postnatally with a favourable evolution during the gestation and neonatal periods. This case was diagnosed at 26 weeks gestation and characterised through ultrasound by the presence of superficial multiple cystic structures of different sizes spreading over the left leg with hemihypertrophy and reduced mobility. The cystic lesions were spreading to the left buttock and the pelvic area. The right leg and upper limbs had normal appearance with good mobility. There were no signs of hyperdynamic circulation or foetal anaemia, but mild polyhydramnios was associated. The ultrasound findings were confirmed postnatally, the left leg presented multiple cystic lesions and port wine stains, and there was hypertrophy and fixed position, with favourable evolution at 6 months of life, when the size of the lesions began to decrease and the mobility of the leg improved. Full article

Sturge–Weber syndrome (SWS) is characterized by facial port-wine stains, leptomeningeal hemangiomas, and prominent ocular manifestations such as glaucoma and diffuse choroidal hemangiomas (DCHs). Imaging modalities are critical for diagnosing and longitudinally monitoring DCHs in SWS. Fundus photography is fundamental in assessing both eyes simultaneously, fluorescein angiography and indocyanine green angiography effectively map the retinal and choroidal circulation, and ultrasonography offers essential structural insights into the choroid and retina. NIR imaging reveals subtle retinal pigment changes, often overlooked in standard fundus examination. Enhanced depth imaging spectral domain optical coherence tomography (EDI-SDOCT) and swept-source OCT (SSOCT) improve the visualization of the choroidal-scleral boundary, essential for DCH characterization. The potential of OCT angiography (OCTA) is under exploration, particularly its role in predicting signs of disease progression or worsening, as well as potential new biomarkers such as the choroidal vascularity index (CVI). The present review aims to provide an update on multimodal imaging of DCHs in SWS. Full article

Background: Port-wine stains (PWS) are congenital low-flow vascular malformations of the skin. PWS tend to become thicker and darker with time. Laser therapy is the gold standard and the first-line therapy for treating PWS. However, some resistant PWS, or PWS that have tissue hypertrophy, do not respond to this therapy. Our aim is to evaluate the role of surgery in the treatment of PWS birthmarks. Methods: A literature search was performed in PubMed, Scopus, Web of Science (WOS) and Google Scholar for all papers dealing with surgery for port-wine stains, from January 2010 to December 2020 using the search strings: (capillary vascular malformation OR port-wine stains OR Sturge Weber Syndrome OR sws OR pws) AND (surgical OR surgery). Results: Ten articles were identified and used for analysis. They were almost all case series with a short follow up period and lacked an objective–systematic score of evaluation. Conclusions: Delay in treatment of port wine stains may result in soft tissue and bone hypertrophy or nodules with disfiguring or destructive characteristics. The correction of PWS-related facial asymmetry often requires bone surgery followed by soft tissue corrections to achieve a more harmonious, predictable result. Full article

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 GNAQ (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. Full article

Background: Klippel–Trenaunay syndrome (KTS) is characterized by a triad of symptoms; varicose veins and venous malformations (VMs), capillary malformations (port-wine stain), and soft tissue and bone hypertrophy. Herein, we retrospectively studied six patients with KTS who underwent treatment with the Flebogrif system and evaluated their outcomes. Methods: Six KTS patients aged 16–22 years who had undergone 18 non-thermal ablations using the Flebogrif system were enrolled. All patients underwent multistage foam sclerotherapy with 3% polidocanol at 3–4-week intervals. Results: Venous clinical severity score (VCSS) analysis showed improvement in the patients’ clinical condition. All patients reported a significant improvement in aesthetic outcomes. One patient presented with recanalization of ablated marginal veins during the 24-month follow-up period. Patients could return to full activity within 7–10 days after the procedure. None of the patients experienced serious systemic complications. Conclusion: The use of the Flebogrif system in treating various forms of chronic venous insufficiency, including in patients with KTS, provides a high success rate with a high closure rate. Full article

The development of appropriate photothermal detection of skin diseases to meet complex clinical demands is an urgent challenge for the prevention and therapy of skin cancer. An extensive body of literature has ignored all high-order harmonics above the second order and their influences on low-order harmonics. In this paper, a new iterative numerical method is developed for solving the nonlinear thermal diffusion equation to improve nonlinear photothermal detection for the noninvasive assessment of the thickness of port-wine stain (PWS). First, based on the anatomical and structural properties of skin tissue of PWS, a nonlinear theoretical model for photothermal detection is established. Second, a corresponding nonlinear thermal diffusion equation is solved by using the new iterative numerical method and taking into account harmonics above the second-order and their effects on lower-order harmonics. Finally, the thickness and excitation light intensity of PWS samples are numerically simulated. The simulation results show that the numerical solution converges fasterand the physical meaning of the solution is clearerwith the new method than with the traditional perturbation method. The rate of change in each harmonic with the sample thickness for the new method is higher than that for the conventional perturbation method, suggesting that the proposed numerical method may provide greater detection sensitivity. The results of the study provide a theoretical basis for the clinical treatment of PWS. Full article

Photodynamic therapy (PDT) is a promising tumor therapy and has been proven to be an effective, safe and minimally invasive technique. Hematoporphyrin monomethyl ether (HMME) mediated PDT has been used in clinical treatment of port wine stain (PWS) due to its single component, high yield of singlet oxygen and short light-sensitive period. However, as an amphiphilic photosensitizer, HMME is easy to aggregate due to the presence of a hydrophobic group, which undesirably reduced its generation of singlet oxygen and bioavailability. In this study, we synthesized the stable conjugate of Au@TiO₂ core-shell nanostructure with HMME, and the influence of different factors on PTD efficiency were studied. The results showed that the nanostructure had higher PTD efficiency for KB cells than that of HMME. The irradiation wavelength, gold nanoparticle shape and the shell thickness are all important factors for KB cell PDT. Full article

Klippel-Trenaunay syndrome (KTS) is a rare complex vascular syndrome with limb hypertrophy. KTS is diagnosed if at least two of the three features of capillary malformation, venous malformation, and soft tissue and/or bone overgrowth are present. Of these, capillary malformation (i.e., port-wine stain) is the most commonly observed feature but may be absent in atypical KTS. We herein report a case of atypical KTS with venous malformation and unilateral soft tissue hypertrophy. Full article