Capillary malformations, Sturge-Weber syndrome
Conditions
Interventions
Skin biopsy
Sponsors
None listed
Eligibility
Inclusion criteria
Inclusion criteria: - Patients with (a) PWS(s) or PWSs as part of the Sturge-Weber syndrome. - Patients from and above the age of 18 years. - Patients of both sexes, and all Fitzpatrick skin types.
Exclusion criteria
Exclusion criteria: - Patients with a facial PWS that does not extend into the hairline (to prevent possible scar formation on a visible location) - Patients with a different type of vascular malformation; non-port wine stain - Patients with a mix of vascular malformations - Patients with a coagulation disorder leading to prolonged bleeding. - Patients using blood anticoagulants (excluding NSAIDs), such as clopidogrel, heparin, dipyridamole, or other variants. - Patients who are likely not able to understand the terms and risks of the study (e.g. cognitive impairment).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To assess if somatic mutations in the GNAQ, GNA11, RASA1 or PIK3CA gene are present in PWSs, and link to PWS characteristics. | — |
Secondary
| Measure | Time frame |
|---|---|
| To assess the biochemical profile, barrier function, angiogenic sprouting capacity and wound healing properties of endothelial cells from blood vessels of PWSs. | — |
Contacts
Public ContactGinger Beau Langbroek
Amsterdam UMC location AMC
Outcome results
None listed