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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 -
Journal of Pediatric Endocrinology &... Jan 2024Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder that is characterized by a segmental dermatomal facial port-wine stain birthmark and is frequently... (Review)
Review
OBJECTIVES
Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder that is characterized by a segmental dermatomal facial port-wine stain birthmark and is frequently accompanied by ipsilateral brain and eye abnormalities. We present a case of a patient with SWS who exhibited hypogonadotropic hypogonadism, growth hormone (GH) deficiency, and central hypothyroidism at the age of 20 despite the absence of radiographic findings in the pituitary and hypothalamus.
CASE PRESENTATION
A 20-year-old male with SWS with epilepsy and Klippel-Trenaunay syndrome presents with delayed pubertal development, short stature, and obesity. Upon further examination, he was found to have biochemical and clinical evidence of hypogonadism, hypothyroidism, and GH deficiency. A pituitary MRI displayed no abnormalities of the pituitary or hypothalamus. Treatment with testosterone cypionate and levothyroxine was initiated. Despite successful pubertal induction, IGF-1 levels have remained low and treatment with recombinant human growth hormone (rhGH) is now being considered for metabolic benefits.
CONCLUSIONS
This case emphasizes the importance of endocrine evaluation and treatment of hormonal deficiencies in patients with SWS despite the absence of radiographic findings.
Topics: Humans; Male; Young Adult; Dwarfism, Pituitary; Hypogonadism; Hypopituitarism; Hypothalamus; Hypothyroidism; Port-Wine Stain; Sturge-Weber Syndrome
PubMed: 38006605
DOI: 10.1515/jpem-2023-0408 -
Facial Plastic Surgery Clinics of North... Feb 2024Vascular lesions impact up to 5% of children and range in clinical impact from minor cutaneous aberrations to large masses impacting both form and function. Vascular... (Review)
Review
Vascular lesions impact up to 5% of children and range in clinical impact from minor cutaneous aberrations to large masses impacting both form and function. Vascular lesions may be characterized as tumors or malformations. Establishing a clear diagnosis is imperative to understanding the natural history of a vascular lesion and developing a treatment plan. Medical, surgical, intralesional, and laser therapy are all effective and indicated on a case-by-case basis. There are a number of important surgical considerations for operative management of these lesions.
Topics: Child; Humans; Hemangioma; Port-Wine Stain; Laser Therapy; Skin; Low-Level Light Therapy
PubMed: 37981409
DOI: 10.1016/j.fsc.2023.09.003 -
Lasers in Medical Science Nov 2023The purpose of this study is to determine the efficacy and safety of 595-nm pulsed dye laser (PDL) for port wine stains (PWS) treatment in Vietnamese patients. The study...
The purpose of this study is to determine the efficacy and safety of 595-nm pulsed dye laser (PDL) for port wine stains (PWS) treatment in Vietnamese patients. The study also analyzed the association between the response to treatment and the characteristics of patients and treatment regimens. Parallelly, the study contributed to further optimal treatment sessions for different subjects based on the data collected. One hundred twenty-five patients who underwent 595-nm PDL to treat PWS were included in the study, in which data from 124 patients was retrospectively analyzed. Data on demographic characteristics of patients, treatment regimens, and clinical improvement were collected. SPSS version 25 was used to analyze the relationship between associated factors and the response rate. The overall response rate of Vietnamese patients who had Fitzpatrick skin classification type III and IV was 73.4%. Age, gender, treatment sessions, and lesion positions were generally not associated with the response rate. The lesion grade was the sole element that affected the clinical improvement. The lesion grade 1 had the best response (100%) even after a short duration of treatment (six to ten treatments). Lesion grade 4 demanded over 16 treatments to reach > 60% of improvement. The lesion grades 1 and 2 could be blanched with regimen < 10 treatments while regimens exceeding 15 treatments should be carefully considered for lesions at grade 3 after evaluating associated conditions. Lesions at grade 4 demanded ≥ 16 treatments to reach acceptable outcomes. These results could help physicians establish a reasonable treatment strategy for patients.
Topics: Humans; Lasers, Dye; Port-Wine Stain; Retrospective Studies; Southeast Asian People
PubMed: 37934314
DOI: 10.1007/s10103-023-03926-8 -
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 -
Pediatric Dermatology 2024High-flow vascular malformations have been associated with multiple syndromes including capillary malformation-arteriovenous malformation (CM-AVM) syndrome, hereditary...
High-flow vascular malformations have been associated with multiple syndromes including capillary malformation-arteriovenous malformation (CM-AVM) syndrome, hereditary hemorrhagic telangiectasia syndrome, and less commonly, phosphatase and tensin homolog hamartoma tumor syndrome (PHTS). We present a series of three patients with clinically challenging complex AVMs who were found to have underlying PHTS. In all patients, diagnosis was delayed, and the presence of the AVM prompted sampling and genetic testing for PHTS in the absence of other clinical features of the condition. This series highlights the importance of screening for PHTS in the setting of high-flow vascular malformations.
Topics: Humans; Hamartoma Syndrome, Multiple; Arteriovenous Malformations; Telangiectasia, Hereditary Hemorrhagic; Vascular Malformations; Doxorubicin; PTEN Phosphohydrolase; Capillaries; Port-Wine Stain
PubMed: 37800459
DOI: 10.1111/pde.15435