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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 -
Skin Research and Technology : Official... Oct 2023Studies on pulsed dye laser (PDL) have shown the best efficacy and safety data for treating vascular anomalies among the various lasers used and the 595-nm PDL has been...
BACKGROUND
Studies on pulsed dye laser (PDL) have shown the best efficacy and safety data for treating vascular anomalies among the various lasers used and the 595-nm PDL has been used to treat cutaneous vascular anomalies for about 30 years. The purpose of this study was to assess the efficacy of 595 nm Pulsed Dye Laser in the management of facial flat angiomas present in the form of Port-Wine Stain.
MATERIALS AND METHODS
Seven cases of PWS in Fitzpatrick skin type ranged from I to III and colour ranging from pink to purple, were treated with 595 nm pulse Dye Laser. Patients underwent to 6-8 laser sessions at 20-30 days intervals. Results obtained were judged by dermatologist, by comparing pre-treatment and post-treatment photographs, 6 months after the last session and a quartile scale of lesion clearance (4-point Investigator Global Assessment scale): 1 = no or low results (0%-25% of the lesion area improved), 2 = slight improvement (25%-50% of the lesion area cleared), 3 = moderate-good improvement (50%-75%), and 4 = excellent improvement (75%-100%) was used. Possible side effects such as blisters, hyper/hypopigmentation, and scarring were monitored.
RESULTS
All patients observed global improvements. 71% of patients achieved excellent clearance and 29% patients achieved good-moderate clearance of their angioma. Patients were asked for a subjective evaluation of the results: 57% of patients were very satisfied, 29% were satisfied, and 14% patients were not very satisfied with the results. No patients were dissatisfied. No significant side effects were noted.
CONCLUSION
This research confirms the efficacy of the 595 nm PDL for flat angioma management, without considerable side effects.
Topics: Humans; Treatment Outcome; Lasers, Dye; Port-Wine Stain; Cicatrix; Hemangioma
PubMed: 37881052
DOI: 10.1111/srt.13494 -
Photodiagnosis and Photodynamic Therapy Dec 2023Photodynamic therapy (PDT) is a potential treatment for port-wine stains (PWS), but its effects on intraocular pressure (IOP) have not been reported. This study...
BACKGROUND
Photodynamic therapy (PDT) is a potential treatment for port-wine stains (PWS), but its effects on intraocular pressure (IOP) have not been reported. This study evaluated the efficacy of PDT for facial PWS and analyzed the changes in IOP before and after treatment.
METHODS
Data from 32 patients with facial PWS who underwent single PDT treatment at our department were collected. The patients were divided into three groups based on the location of the PWS. Group A (15 cases) involved the eyelid of the eye being measured; Group B (10 cases) was located near the eyes but did not involve the measured eyelid; and Group C (7 cases) was situated on the face but not near the eyes. IOP measurements were taken before and after treatment, and the efficacy and changes in IOP were analyzed.
RESULTS
The overall efficacy rates of single PDT were 84.37 %, demonstrating superior efficacy for the pink type, age < 6 years, and skin lesions < 10 cm (P < 0.05). The higher IOP was observed on the side with eyelid involvement of PWS (P < 0.001). The IOP of the affected side in Group A decreased by 2.13 ± 2.10 mmHg on average after treatment, which was statistically significant compared with the other two groups (P<0.05).
CONCLUSIONS
Eyelid involvement in PWS increases the risk of elevated IOP. Hemoporfin-mediated PDT can reduce the IOP in patients with PWS involving the eyelid within a safe range. PDT for facial PWS is considered to be safe and effective.
Topics: Humans; Child; Photosensitizing Agents; Port-Wine Stain; Photochemotherapy; Intraocular Pressure; Glaucoma
PubMed: 37866443
DOI: 10.1016/j.pdpdt.2023.103840 -
Cureus Sep 2023As social media usage grows, more patients are turning to various platforms to gain and share medical information. One platform, TikTok, has become immensely popular,...
BACKGROUND
As social media usage grows, more patients are turning to various platforms to gain and share medical information. One platform, TikTok, has become immensely popular, with over one billion users. Despite its potential use as an educational tool, TikTok can be unreliable and misleading as a medical information source.
OBJECTIVE
We aim to discuss the information available on TikTok regarding laser treatment for port wine stains (PWS).
METHODS
Two independent reviewers analyzed 200 TikTok videos with the hashtags #portwinestainlaser or #portwinestaintreatment, examining the video creator's role (e.g., patient, parent, physician, or other), tone towards PWS and treatment options, and content (e.g., educational or non-educational, mention of any treatment risks).
RESULTS
Most videos were produced by non-medical professionals (83%), and only a small number discussed the potential adverse effects of PWS treatment options (15%).
CONCLUSION
While TikTok may have a role in educating patients about certain dermatologic conditions and treatment options, it is important to encourage patients to seek medical advice from a qualified medical professional before making any treatment decisions. Furthermore, the future of patient education may need to evolve to include social media platforms.
PubMed: 37842395
DOI: 10.7759/cureus.45119 -
Photodiagnosis and Photodynamic Therapy Dec 2023To conduct a retrospective analysis of Hemoporfin photodynamic therapy (HMME-PDT) in the treatment of port-wine stains (PWS).
OBJECTIVE
To conduct a retrospective analysis of Hemoporfin photodynamic therapy (HMME-PDT) in the treatment of port-wine stains (PWS).
METHOD
A retrospective analysis was conducted based on the clinical data from March 2017 to December 2022, so as to summarize the demographic characteristics, clinical efficacy and adverse reactions. The effectiveness of HMME-PDT was examined with respect to treatment times, age, gender, subtype, and location of PWS lesions.
RESULT
The age of the 2952 cases ranged from 8 months to 56 years old (median, 2.8 years), with 1419 males (48.07 %), and 1533 females (51.93 %). There were 669 cases of pink type (22.66 %), 2184 cases of purplish red type (73.98 %), and 99 cases of nodular thickening type (3.35 %). The prevalence location was face (88.04 %), neck (14.94 %), limbs and trunk. 1602 cases (54.27 %) had never received treatment, 661 cases (22.39 %) had been treated by pulse dye laser (PDL), 229 cases (7.76 %) had previously been treated by PDT, 296 cases (10.03 %) had received both the modalities. The 2952 cases completed totally 7996 HMME-PDT times. Cure rate and effective rate increased continuously with the number of treatments. The pink type has the highest cure rate and effective rate, followed by the purplish red type and the last was the nodular thickening type. The therapeutic effects are considerably influenced by age, subtype, and treatment site (P < 0.05). However, there was no significant difference in the effectiveness of HMME-PDT between both genders. The local adverse reactions after the first treatment included edema (97.73 %), itching (82.62 %), purpura-like change (79.51 %), crusts (24.59 %), infection (4.07 %), scars (1.08 %), hyperpigmentation (0.61 %), and depigmentation (0.41 %). Nausea and vomiting occurred in 2 juveniles and 1 young adult (5, 6 and 22 years old respectively) immediately after treatment, and did not interfere with the administration of the treatment. Patients aged 21-30 were found to have a 3.4-fold higher likelihood of undergoing HMME-PDT under general anesthesia compared to those aged 15 or younger. There was no distinct systemic adverse reaction, such as allergic responses, cardiovascular effects, neurological symptoms, hematological abnormalities, respiratory symptoms, or musculoskeletal issues.
CONCLUSION
HMME-PDT is preferred in treating PWS, with relatively high effective rate and cure rate, mild local reactions and no distinct systemic adverse reaction.
Topics: Young Adult; Humans; Male; Female; Child; Adolescent; Adult; Photosensitizing Agents; Port-Wine Stain; Photochemotherapy; Retrospective Studies; Hematoporphyrins; Treatment Outcome
PubMed: 37827224
DOI: 10.1016/j.pdpdt.2023.103837 -
Dermatology and Therapy Oct 2023Port-wine stains (PWS) are congenital capillary abnormalities caused by immature, venule-like vasculature that progressively dilates due to poor endothelial cell...
INTRODUCTION
Port-wine stains (PWS) are congenital capillary abnormalities caused by immature, venule-like vasculature that progressively dilates due to poor endothelial cell differentiation. PWS affects between 0.3% and 0.9% of newborns, with 90% of cases occurring on the face. Individuals with facial PWS and their parents had a significant negative impairment on their quality of life (QoL) and also suffered from psychological disabilities.
METHODS
This was a cross-sectional questionnaire-based survey study in Thailand from July 2021 to April 2022. The questionnaires included demographic data, subjective evaluation (SE), and the Dermatology Life Quality Index (DLQI). The questionnaire was performed with a full scale and adjusted scale of validity and reliability test of DLQI using factor analysis and Cronbach's alpha. The study outcome was a subjective evaluation and DLQI in patients who received pulsed dye laser (PDL) treatment.
RESULTS
Of the 54 patients, 35.2% (19) are male, and 64.8% (35) are female. Regarding age groups, 64.8% (35) are below 5 years old, and 35.2% (19) are older than 5 years. SE results showed that males evaluated an improvement of the facial PWS lesion significantly better than females (P < 0.05). The older age group graded the percentage of improvement better than the younger age group (P < 0.01). The result of the DLQI showed no difference in DLQI between gender. Older age result resulted in a significantly different DLQI compared with younger age (P < 0.01). Parent-reported DLQI improvement was less than self-reported DLQI improvement in patients with PWS treated with PDL (P < 0.05). Concerning the instrument of the study, the validity and reliability analysis of the DLQI questionnaire using factor analysis and Cronbach's alpha have been performed. The adjusted scale with the 5-item DLQI questionnaire is more appropriate in terms validity and reliability.
CONCLUSION
This study demonstrates that facial PWS reduces the QoL as measured by DLQI. We discovered that the QoL of patients and parents with PWS was significantly impaired. The main influencing factors were older age, the improved perception between gender, and PDL treatments. In addition, we found only five questions that are reliable for PWS. The adjusted five-item DLQI questionnaires are more appropriate regarding validity and reliability.
TRIAL REGISTRATION NUMBER
TCTR20230210001, COA no. si 1059/2020.
PubMed: 37710079
DOI: 10.1007/s13555-023-01011-0 -
Orphanet Journal of Rare Diseases Sep 2023Somatic mutations of cancer driver genes are found to be responsible for vascular malformations with clinical manifestations ranging from cutaneous birthmarks to...
BACKGROUND
Somatic mutations of cancer driver genes are found to be responsible for vascular malformations with clinical manifestations ranging from cutaneous birthmarks to life-threatening systemic anomalies. Till now, only a limited number of cases and mutations were reported in Chinese population. The purpose of this study was to describe the somatic mutation spectrum of a cohort of Chinese pediatrics with vascular malformations.
METHODS
Pediatrics diagnosed with various vascular malformations were collected between May 2019 and October 2020 from Beijing Children's Hospital. Genomic DNA of skin lesion of each patient was extracted and sequenced by whole-exome sequencing to identify pathogenic somatic mutations. Mutations with variant allele frequency less than 5% were validated by ultra-deep sequencing.
RESULTS
A total of 67 pediatrics (33 males, 34 females, age range: 0.1-14.8 years) were analyzed. Exome sequencing identified somatic mutations of corresponding genes in 53 patients, yielding a molecular diagnosis rate of 79.1%. Among 29 PIK3CA mutations, 17 were well-known hotspot p.E542K, p.E545K and p.H1047R/L. Non-hotspot mutations were prevalent in patients with PIK3CA-related overgrowth spectrum, accounting for 50.0% (11/22) of detected mutations. The hotspot GNAQ p.R183Q and TEK p.L914F mutations were responsible for the majority of port-wine stain/Sturge-Weber syndrome and venous malformation, respectively. In addition, we identified a novel AKT1 p.Q79K mutation in Proteus syndrome and MAP3K3 p.E387D mutation in verrucous venous malformation.
CONCLUSIONS
The somatic mutation spectrum of vascular malformations in Chinese population is similar to that reported in other populations, but non-hotspot PIK3CA mutations may also be prevalent. Molecular diagnosis may help the clinical diagnosis, treatment and management of these pediatric patients with vascular malformations.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Male; Class I Phosphatidylinositol 3-Kinases; East Asian People; Hemangioma; Mutation; Vascular Malformations
PubMed: 37658401
DOI: 10.1186/s13023-023-02860-w -
Skin Research and Technology : Official... Aug 2023The Flash-lamp pulsed dye laser (FPDL) is nowadays considered the most precise laser currently on the market for treating superficial vascular lesions. In this study, we...
INTRODUCTION
The Flash-lamp pulsed dye laser (FPDL) is nowadays considered the most precise laser currently on the market for treating superficial vascular lesions. In this study, we gathered data from 10 years of experience regarding dye laser treatment of patients presenting vascular malformations such as telangiectasia, rhinophyma, port-wine stain, cherry and spider angioma and vascular tumours.
METHODS
Subjects were enrolled from 2013 to 2023 based on the vascular anomalies they presented. They underwent different treatment sessions with the FPDL device.
RESULTS
The age-range distribution by vascular anomaly confirmed that haemangiomas are typical in children while rhinophyma is a condition very common in older adults. A difference in sex distribution showed that pathologies such as telangiectasias typically affect women whereas rhinophyma is more frequent in men. Most of the treatments interested the face area but no permanent side effects were registered.
CONCLUSIONS
Our 10 years of experience with FPDL demonstrated good results in a wide range of applications for the treatment of different vascular anomalies. The absence of long-term side effects and bearable pain during the treatment makes it a valuable solution for the resolution of benign tumours also in very young patients.
Topics: Female; Humans; Male; Lasers, Dye; Retrospective Studies; Rhinophyma; Hemangioma; Vascular Malformations
PubMed: 37632184
DOI: 10.1111/srt.13427