The Role of Angiogenesis-related Pathways in the Development of Port Wine Stains

Study Overview
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Brief Summary
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Port wine stain (PWS) is a congenital, progressive vascular malformation of human skin involving the superficial vascular plexus that occurs in estimated 3-5 children per 1,000 live births. In childhood, PWS are flat red macules, but lesions tend to darken progressively to purple and, by middle age, often become raised as a result of the development of vascular nodules. Because most malformations occur on the face, PWS is a clinically significant problem in the majority of patients. The late-stage cobblestoning appearance of PWS subjects is comprised by not only pronounced vascular ectasia with proliferation of thin and/or thick-walled vessels and their stroma, but also numerous epithelial, neural and mesenchymal hamartomatous abnormalities. Despite these histologic observations, the specific mechanisms involved in PWS nodular formation remains unclear. In one nodular PWS subject, we found that phosphatidylinositol 3-kinases (PI3K)/protein kinase B (AKT) and phosphoinositide phospholipase C g subunit (PLC-g) were activated in both hypertrophic areas and nodules within the lesion. These observations led us to hypothesize that the PI3K pathway may play an important role in nodular formation.

Official Title
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The Role of Angiogenesis-related Pathways in the Development of Refractory Port Wine Stains

Conditions
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Port Wine Stain

Intervention / Treatment
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* Radiation: Pulsed dye laser (PDL)


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Age 1 month - 70 years old, male or female; The patient and the family of the child agreed to participate in the experiment and signed an informed consent form; Clinical diagnosis of refractory port wine stains with thickened nodular or PDL resistance; .There is no bleeding, ulceration, infection, etc. affecting the visual field of laser surgery operation. Exclusion Criteria: Patients with severe infectious diseases; Heart disease patients; Epilepsy patient; Pregnant patient; Researchers believe that patients who are not suitable for this experiment

Ages Eligible for Study
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Minimum Age: 1 Month
Maximum Age: 70 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Basic Science
Allocation: Randomized
Intervention Model: Single Group Assignment
Masking: Double


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Treatment group<br>Patients with port wine stains receive PDL (1.5-10ms, 11-12.5J/cm2) with a treatment range of approximately 10*10cm2 | Radiation: Pulsed dye laser (PDL)<br>* Pulsed dye laser (PDL, 595nm) is effective for vasodilatory diseases, especially for the superficial to middle layers of the dermis<br>|
| No Intervention: No treatment group<br>Patients with port wine stains have not been treated with PDL treatment | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Exon mutation sequences and mutation frequencies | In patients with nodular port wine stains, the exon mutation sequence and mutation frequency were compared between normal skin tissue (or blood), erythema and nodular tissue of the same patient. | Baseline (before treatment) | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Changes in the levels of cytokines in serum and skin tissues | Changes in the levels of VEGF, FGF, HGF, PDGF, TGF-beta and other factors in serum and skin tissues before and after laser treatment | baseline (before treatment) and 1, 3, 7 days after treatment | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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port wine stain, PI3K, vascular malformation,PDL