Responsiveness of the condition-specific Outcome measures for VAscular MAlformations (OVAMA) questionnaire to measure symptoms and appearance in patients with vascular malformations.

Background: Evidence-based guidelines for the treatment of vascular malformations (VMs) are not readily available, possibly due to the diversity in methods used to evaluate treatment efficacy in clinical research, complicating the aggregation and comparison of study results. The Outcome measures for VAscular MAlformations (OVAMA) questionnaire was developed to measure uniformly symptoms and appearance (i.e.

Characterization of Patient-Derived GNAQ Mutated Endothelial Cells from Capillary Malformations.

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.

The long-term progression of macrodactyly.

Background: Macrodactyly is a rare congenital disorder of overgrowth affecting the digits of the upper or lower extremity. Mostly, patients are surgically treated during childhood to reduce the digit or to stop growth. There are no standardized guidelines for the treatment and follow-up of macrodactyly.

Clinical characteristics associated with pain in patients with peripheral vascular malformations.

Objective: Vascular malformations (VM) can negatively impact the patient's quality of life (QoL). Pain is a common problem in these patients. The aim of this study was to investigate risk factors associated with pain and to assess how pain affects QoL.