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Cureus Oct 2022The Klippel-Trénaunay syndrome (KTS) is a rare form of a birth disorder that includes capillary malformation, hypertrophy of bones and soft tissues, and tortuous...
The Klippel-Trénaunay syndrome (KTS) is a rare form of a birth disorder that includes capillary malformation, hypertrophy of bones and soft tissues, and tortuous varicosities, as well as hypertrophy of the capillaries resulting in hemangiomas and port wine discoloration. KTS is also known as angio-osteohypertrophy syndrome and dysplastic angiopathy. In this case report, we describe the case of a 13-year-old female with multiple superficial varicosities on the medial aspect of her left leg since birth. Computed tomography angiogram assessed and identified abnormal venous drainage in the lower limb. Klippel-Trénaunay-Weber syndrome (KTWS) differs from KTS in that KTWS involves arteriovenous malformations.
PubMed: 36381931
DOI: 10.7759/cureus.30128 -
International Journal of Molecular... Oct 2022Port-wine stains (PWSs) are congenital vascular malformations that involve the skin and mucosa. To date, the mechanisms underlying the pathogenesis and progression of... (Review)
Review
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 (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.
Topics: Humans; Port-Wine Stain; Ribosomal Protein S6 Kinases, 70-kDa; Vascular Endothelial Growth Factor Receptor-2; Angiopoietin-2; Imiquimod; Photosensitizing Agents; Ephrin-B2; Axitinib; Proto-Oncogene Proteins c-akt; Receptor, EphA1; Sirolimus; Phosphatidylinositol 3-Kinases; Treatment Outcome
PubMed: 36292993
DOI: 10.3390/ijms232012139 -
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 -
Journal of Plastic, Reconstructive &... Nov 2022Peripheral vascular malformations (VMs) may lead to disfigurement of the body and face, potentially impairing aesthetic appearance. Yet, data on appearance in this...
BACKGROUND
Peripheral vascular malformations (VMs) may lead to disfigurement of the body and face, potentially impairing aesthetic appearance. Yet, data on appearance in this population is limited. This study aimed to examine appearance-related concerns and their impact on health-related quality of life (HR-QoL) in patients with VMs.
METHODS
In this cross-sectional study, 384 adults and 194 children with VMs were invited to complete the Outcome Measures for VAscular MAlformations (OVAMA) questionnaire to evaluate potential appearance-related concerns on a five-point verbal-rating scale, with higher scores indicating more appearance-related concerns (e.g., colour-difference, facial-distortion, reduced self-esteem, and dissatisfaction with appearance). HR-QoL was evaluated using Patient-Reported Outcome Measurement Information System (PROMIS). Subgroups of patients reporting more appearance-related concerns were identified using univariate analysis. Associations between appearance-related concerns and various HR-QoL domains (e.g., anxiety and social participation) were assessed.
RESULTS
A total of 184 patients (32%) completed the questionnaires; 121 patients (66%) reported that one or more appearance outcome was severely affected (i.e., 4-5 out of 5). The following factors statistically significant associated with more appearance-related concerns: capillary/combined origin, facial localization, subcutaneous tissue involvement, larger size, overgrowth, and diagnosis of a syndrome. In adults, dissatisfaction with appearance and reduced self-esteem due to the appearance of the VM correlated with more anxiety and depression symptoms. Reduced self-esteem correlated with less social participation. In children, bodily distortion and being stared at were correlated with less peer relationships.
CONCLUSION
Severe appearance-related concerns were present in two-thirds of patients with VMs, impairing their mental HR-QoL. Clinicians should acknowledge appearance-related aspects, monitor psychological well-being, and offer intervention aimed at improving satisfaction with appearance.
Topics: Adult; Child; Humans; Quality of Life; Cross-Sectional Studies; Self Concept; Surveys and Questionnaires; Vascular Malformations
PubMed: 36210292
DOI: 10.1016/j.bjps.2022.08.042 -
Lasers in Surgery and Medicine Jan 2023Port wine birthmark, also known as port wine stain (PWS) is a skin discoloration characterized by red/purple patches caused by vascular malformation. PWS is typically...
BACKGROUND AND OBJECTIVES
Port wine birthmark, also known as port wine stain (PWS) is a skin discoloration characterized by red/purple patches caused by vascular malformation. PWS is typically treated by using lasers to destroy abnormal blood vessels. The laser heating facilitates selective photothermolysis of the vessels and attenuates quickly in the tissue due to high optical scattering. Therefore, residual abnormal capillaries deep in the tissue survive and often lead to the resurgence of PWS. Ultrasound (US) has also been proposed to treat PWS, however, it is nonselective with respect to the vasculature but penetrates deeper into the tissue. We aim to study the feasibility of a hybrid PWS treatment modality combining the advantages of both modalities.
MATERIALS AND METHODS
In this manuscript, we propose a photoacoustic (PA) guided US focusing methodology for PWS treatment which combines the optical contrast-based selectivity with US penetration to focus the US energy onto the vasculature. The PA signals collected by the transducers, when time-reversed, amplified, and transmitted, converge onto the PWS, thus minimally affecting the neighboring tissue. We performed two- and three-dimensional simulations that mimic realistic transducers and medium properties in this proof of concept study.
RESULTS
The time-reversed PA signals when transmitted from the transducers converged onto the vasculature, as expected, thus reducing the heating of the neighboring tissue. We observed that while the US focus is indeed affected due to experimental factors such as limited-view, large detector separation and finite detection bandwidth, and so forth, the US did focus completely or partially onto the vasculature demonstrating the feasibility of the proposed methodology.
CONCLUSION
The results demonstrate the potential of the proposed methodology for PWS treatment. This treatment method can destroy the deeper capillaries while minimally heating the neighboring tissue, thus reducing the chances of the resurgence of PWS and as well as cosmetic scarring.
Topics: Humans; Port-Wine Stain; Feasibility Studies; Lasers; Cicatrix; Spectrum Analysis
PubMed: 36208102
DOI: 10.1002/lsm.23609 -
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 -
International Journal of Surgery Case... Oct 2022Klippel-Trenaunay syndrome (KTS) is characterized by a triad of port-wine stain, varicose veins and soft tissue or bony hypertrophy of lower limb. Varicose veins in...
INTRODUCTION AND IMPORTANCE
Klippel-Trenaunay syndrome (KTS) is characterized by a triad of port-wine stain, varicose veins and soft tissue or bony hypertrophy of lower limb. Varicose veins in Klippel Trenaunay syndrome are mostly distributed in the lateral aspect of the lower limb. The exact etiology of KTS is not known, and the treatment usually starts with conservative management- limb elevation, compression stockings and physiotherapy. However, some cases are severe enough to warrant surgical management.
CASE PRESENTATION
Here we present a case of a 3-year-old male child with clinical features suggestive of Klippel Trenaunay Syndrome managed successfully with sclerotherapy of persistent lateral marginal vein of servelle. At one month follow-up the vein was sclerosed and there was a significant reduction in varicosities of leg.
CLINICAL DISCUSSION
Starting treatment of varicose veins in Klippel Trenaunay Syndrome in children is effective in preventing long-term complications in adults. Thus, treating venous malformation with sclerotherapy is warranted in early childhood to prevent venous hypertension and chronic venous insufficiency.
CONCLUSION
Varicose veins in KT syndrome can be managed successfully by sclerotherapy of lateral marginal vein of servelle resulting in significant reduction in varicosities of leg.
PubMed: 36170793
DOI: 10.1016/j.ijscr.2022.107673 -
Cureus Aug 2022Klippel-Trenaunay Syndrome (KTS) is a rare congenital capillary/venous malformation (CVM) disorder associated with deep soft-tissue swelling. A seven-year-old Caucasian...
Klippel-Trenaunay Syndrome (KTS) is a rare congenital capillary/venous malformation (CVM) disorder associated with deep soft-tissue swelling. A seven-year-old Caucasian male with a history of Klippel-Trenaunay Syndrome presented to the dermatology clinic for evaluation and treatment of mildly edematous right lower extremity and varicose veins with multiple, small port-wine stains and nodules. Typically, cases of KTS report large port-wine stains, where a multidisciplinary approach is the mainstay for management. However, this case involves a clinical presentation of mild KTS with atypical, port-wine stains on the affected limb.
PubMed: 36158438
DOI: 10.7759/cureus.28303 -
Journal of Clinical Medicine Sep 2022Klippel-Trenaunay syndrome (KTS) is characterized by a triad of symptoms; varicose veins and venous malformations (VMs), capillary malformations (port-wine stain), and...
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.
PubMed: 36142903
DOI: 10.3390/jcm11185255 -
Journal of Lasers in Medical Sciences 2022Many clinical studies and protocols have been written about laser treatment for fair skin phototypes. However, for dark-skinned phototypes, information is limited, and...
Many clinical studies and protocols have been written about laser treatment for fair skin phototypes. However, for dark-skinned phototypes, information is limited, and the risk of burns is higher, especially if the same settings are recommended for fair skin. Competitive epidermal melanin absorption decreases the light energy reaching dysplastic vessels in a port-wine stain (PWS), preventing the vessel from achieving the temperature of the desired clinical result. Therefore, the choice of safe laser settings for different skin phototypes can be realized using numerical modeling of PWS vessel heating. This study aimed to demonstrate the algorithm for choosing both effective and safe photodestruction of dilated dermal vessels in PWS with the copper vapor laser (CVL) at 578 nm for different skin phototypes. We used the multilayered skin model with different melanin content for detecting the safe laser parameters for PWS treatment. The calculation of the selective heating of the vascular component with CVL radiation at yellow 578-nm wavelengths for different skin phototypes was performed via Matlab mathematical programming system and its application Femlab for solving partial differential equations using the Finite element method. We determined the location, depth, and size of blood vessels that could be selectively heated to coagulation temperature for different skin prototypes. CVL fluence values need to be reduced almost two times for skin phototype IV than for skin phototype II to provide safe CVL treatment. The maximum depth of the location of the vessels, which can be selectively heated to coagulation temperature, also decreased for dark skin phototypes. Histological and histochemical findings validated the results of our calculations. To our knowledge, the use of numerical simulation to optimize has not yet been considered. According to our calculations, CVL could selectively heat the dilated vessel, which occurred in purple and proliferative-type PWS for dark skin at the reduced fluence range and depth.
PubMed: 35996485
DOI: 10.34172/jlms.2022.11