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International Journal of Environmental... May 2022The development of appropriate photothermal detection of skin diseases to meet complex clinical demands is an urgent challenge for the prevention and therapy of skin...
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.
Topics: Computer Simulation; Hemangioma, Capillary; Humans; Models, Theoretical; Nonlinear Dynamics; Port-Wine Stain; Skin
PubMed: 35565029
DOI: 10.3390/ijerph19095637 -
Cureus Jan 2021Benign vascular neoplasms are common clinical problems encountered in the practice of primary care. Pyogenic granulomas are one of the most common benign vascular...
Benign vascular neoplasms are common clinical problems encountered in the practice of primary care. Pyogenic granulomas are one of the most common benign vascular lesions in young adults. Although the physiopathological mechanism for the development of this condition is still not well understood, it has been commonly associated with several triggers such as treatment with retinoids, biological agents, invasive cutaneous therapies and trauma. The development of pyogenic granulomas on sites of vascular malformations like port wine stains has been described in the literature to occur rarely. Most of these types of cases have been studied to occur in the setting of pregnancy and after cryotherapy or pulsated laser therapy. The aim of this article is to present the case of a 21-year-old man with a recent appearance of a pyogenic granuloma within an underlying port wine stain in the posterior cervical region without any history of triggers or risk factors. Excision of the vascular lesion was done, and histopathological report confirmed the diagnosis. The objective of this manuscript is to discuss the possible mechanisms involved in the development of this uncommon presentation and to summarize the current literature related to this clinical scenario.
PubMed: 33564515
DOI: 10.7759/cureus.12509 -
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 -
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 -
The Journal of Investigative Dermatology Jun 2024Capillary malformations (CM) (port-wine stains) are congenital skin lesions that are characterized by dilated capillaries and postcapillary venules. CMs are caused by...
Capillary malformations (CM) (port-wine stains) are congenital skin lesions that are characterized by dilated capillaries and postcapillary venules. CMs are caused by altered functioning of the vascular endothelium. Somatic genetic mutations have predominantly been identified in the endothelial cells of CMs, providing an opportunity for the development of targeted therapies. However, there is currently limited in-depth mechanistic insight into the pathophysiology and a lack of preclinical research approaches. In a monocenter exploratory study of 17 adult patients with CMs, we found somatic sequence variants in the GNAQ (p.R183Q, p.R183G, or p.Q209R) or GNA11 (p.R183C) genes. We applied an endothelial-selective cell isolation protocol to culture primary endothelial cells from skin biopsies from these patients. We successfully expanded patient-derived cells in culture in 3 of the 17 cases while maintaining endothelial specificity as demonstrated by vascular endothelial-cadherin immunostainings. In addition, we tested the angiogenic capacity of endothelial cells from a patient with a GNAQ (p.R183G) sequence substitution. These proof-of-principle results reveal that primary cells isolated from CMs may represent a functional research model to investigate the role of endothelial somatic mutations in the etiology of CMs, but improved isolation and culture methodologies are urgently needed to advance the field.
Topics: Humans; GTP-Binding Protein alpha Subunits, Gq-G11; Endothelial Cells; Capillaries; Male; Female; Mutation; Adult; Port-Wine Stain; Cells, Cultured; Skin; Vascular Malformations; GTP-Binding Protein alpha Subunits; Middle Aged; Biopsy; Young Adult
PubMed: 38013159
DOI: 10.1016/j.jid.2023.10.033 -
Sao Paulo Medical Journal = Revista... 2022Congenital vascular anomalies and hemangiomas (CVAH) such as infantile hemangiomas, port-wine stains and brain arteriovenous malformations (AVMs) impair patients' lives... (Review)
Review
BACKGROUND
Congenital vascular anomalies and hemangiomas (CVAH) such as infantile hemangiomas, port-wine stains and brain arteriovenous malformations (AVMs) impair patients' lives and may require treatment if complications occur. However, a great variety of treatments for those conditions exist and the best interventions remain under discussion.
OBJECTIVE
To summarize Cochrane systematic review (SR) evidence on treatments for CVAH.
DESIGN AND SETTING
Review of SRs conducted in the Division of Vascular and Endovascular Surgery of Universidade Federal de São Paulo, Brazil.
METHODS
A broad search was conducted on March 9, 2021, in the Cochrane Database of Systematic Reviews to retrieve any Cochrane SRs that assessed treatments for CVAH. The key characteristics and results of all SRs included were summarized and discussed.
RESULTS
A total of three SRs fulfilled the inclusion criteria and were presented as a qualitative synthesis. One SR reported a significant clinical reduction of skin redness by at least 20%, with more pain, among 103 participants with port-wine stains. One SR reported that propranolol improved the likelihood of clearance 13 to 16-fold among 312 children with hemangiomas. One SR reported that the relative risk of death or dependence was 2.53 times greater in the intervention arm than with conservative management, among 218 participants with brain AVMs.
CONCLUSION
Cochrane reviews suggest that treatment of port-wine stains with pulsed-dye laser improves redness; propranolol remains the best option for infantile hemangiomas; and conservative management seems to be superior to surgical intervention for treating brain AVMs.
Topics: Arteriovenous Malformations; Brazil; Child; Hemangioma; Humans; Port-Wine Stain; Systematic Reviews as Topic
PubMed: 35293939
DOI: 10.1590/1516-3180.2021.0374.R2.15092021 -
Clinical, Cosmetic and Investigational... 2022Refractory port-wine stain (PWS) usually contains hypertrophic, nodular lesions or severe scars due to improper treatment, making surgical treatment a necessity. This...
OBJECTIVE
Refractory port-wine stain (PWS) usually contains hypertrophic, nodular lesions or severe scars due to improper treatment, making surgical treatment a necessity. This study aims to introduce our experiences in surgical management of refractory PWSs in the scalp and face.
METHODS
From January of 2013 to September of 2018, 25 patients with refractory PWSs in the scalp and face received surgeries in our department. Clinical manifestation of the disease, the surgical procedures and postoperative complications were reviewed. A Visual Analog Scale (VAS) was applied to evaluate the outcomes.
RESULTS
In this study, surgical procedures included serial resection (4 cases), complete resection followed by local flap transplantation (6 cases) or skin grafting (7 cases), and two-staged surgeries using expanded flaps (5 cases) or expanded prefabricated flap (3 cases). All the skin grafts and flaps survived well. Follow-up evaluation with VAS showed that most patients were satisfied with the surgery.
CONCLUSION
The surgical procedures should depend on the site, area and type of the lesions and patients' personal requirement. Individualized surgical treatment of refractory PWSs achieved satisfactory results in re-establishing symmetric facial contour and improving the overall appearance.
PubMed: 35945977
DOI: 10.2147/CCID.S370491 -
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 -
Clinical, Cosmetic and Investigational... 2022Port wine stain (PWS) is a congenital skin lesion involving capillary malformations. Most PWS lesions will gradually become hypertrophic and appear nodular in contour....
BACKGROUND
Port wine stain (PWS) is a congenital skin lesion involving capillary malformations. Most PWS lesions will gradually become hypertrophic and appear nodular in contour. Current research shows that rapamycin, an mTOR inhibitor, is probably a promising adjunctive therapy for PWS, which suggests that the mTOR signaling pathway may play an important role in its pathological process.
METHODS
From January 2013 to January 2019, 13 samples were obtained during the surgical excision. Each sample was divided into 3 parts according to the type of lesion, namely, the flat, hypertrophic and nodular lesions. Pathologic structures of each type were observed under the microscope after HE staining. The expression of mTORC1, p70S6, p-p70S6, eIF4EBP1 and p-eIF4EBP1 was examined by immunohistochemical staining and western blotting. The location of the expression of mTORC1, p-p70S6 and p-elF4EBP1 was further detected by immunofluorescence staining.
RESULTS
Large amounts of dilated and malformed vessels were observed in all types of PWS lesions. Abundant hyperplastic hair follicles/glands were shown in the hypertrophic or nodular lesions. Phosphorylation level of p70S6 and elF4EBP1 in PWS was significantly higher than those in normal skin and increased accordingly in the progression of PWS. Activated molecules in mTOR signaling pathway were mostly located in the endothelium of malformed vessels. They were also located in the hyperplastic hair follicles/glands of hypertrophic and nodular lesions.
CONCLUSION
The mTOR signaling pathway was increasingly activated during the progression of PWS. Enhanced activation of mTOR signaling pathway may contribute to the hypertrophy and nodularity of PWS. The results provide preliminary evidence for treating PWS and related syndromes by inhibiting mTOR signaling pathway.
PubMed: 35444442
DOI: 10.2147/CCID.S358612 -
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