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Last update 23 Jan 2025

Capillary Malformations, Congenital, 1

Last update 23 Jan 2025

Basic Info

Synonyms

CAPILLARY MALFORMATIONS, CAPILLARY MALFORMATIONS, CONGENITAL, CMAL

+ [12]

Introduction

A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). [PMID:22483320, PMID:25864701]

Clinical Trials associated with Capillary Malformations, Congenital, 1

NL-OMON49348

/ RecruitingNot ApplicableIIT

Capillary malformations, from genotype to phenotype: a focus on endothelial function - ACME (Amsterdam Capillary Malformation Evaluation) study

Start Date06 Apr 2021

Sponsor / Collaborator-

NL-OMON25780

/ RecruitingNot ApplicableIIT

CAPILLARY MALFORMATIONS, FROM GENOTYPE TO PHENOTYPE: A FOCUS ON ENDOTHELIAL FUNCTION

Start Date23 Feb 2021

Sponsor / Collaborator-

ChiCTR2200067026

/ CompletedPhase 1IIT

An open, randomized, single-dose, two-cycle crossover design was used to evaluate the bioequivalence of calcium dobesilate capsule preparation and reference preparation (Doxium) in healthy Chinese subjects

Start Date05 Jul 2018

Sponsor / Collaborator-

100 Clinical Results associated with Capillary Malformations, Congenital, 1

100 Translational Medicine associated with Capillary Malformations, Congenital, 1

0 Patents (Medical) associated with Capillary Malformations, Congenital, 1

924

Literatures (Medical) associated with Capillary Malformations, Congenital, 1

01 Feb 2025·International Journal of Gynecology & Obstetrics

Obstetric management for pregnant women with Klippel–Trenaunay syndrome: A UK case report and review of the literature

Review

Author: Johnson, Jo‐Anne ; Silva Correia, Inês F. ; Hussain, Munawar

AbstractKlippel–Trenaunay Syndrome (KTS) is a rare congenital vascular disorder characterized by extensive capillary and venous malformations that pose unique challenges during pregnancy. This case report discusses the successful management of a 34‐year‐old pregnant woman with KTS who had two caesarean sections, resulting in the birth of two healthy babies. Despite the lack of evidence‐based guidelines for obstetrical management in KTS, a multidisciplinary team collaborated to devise a high‐risk thrombosis management plan, involving the use of compression stocking and low molecular weight heparin prophylaxis. The patient's elevated risk of thrombosis, exacerbated during pregnancy, informed the decision of caesarean sections, aligning with finding that in most KTS pregnancies, this method of delivery based on obstetric indications and arteriovenous malformations is chosen. This case highlights the importance of systematic and patient‐centered care, advocating for comprehensive obstetric management guidelines to address the unique challenges posed by KTS during pregnancy. Further research is warranted to enhance our understanding and refine guidelines for individuals with vascular abnormalities linked to KTS.

01 Dec 2024·Cellular and Molecular Neurobiology

Discovery and Characterization of Ephrin B2 and EphB4 Dysregulation and Novel Mutations in Cerebral Cavernous Malformations: In Vitro and Patient-Derived Evidence of Ephrin-Mediated Endothelial Cell Pathophysiology

Article

Author: Fehnel, Katie P ; Alexandrescu, Sanda ; Ghalali, Aram ; Sesen, Julie ; Driscoll, Jessica ; Zurakowski, David ; Smith, Edward R ; Martinez, Tyra ; Lupieri, Adrien

Intracranial vascular malformations manifest on a continuum ranging from predominantly arterial to predominantly venous in pathology. Cerebral cavernous malformations (CCMs) are capillary malformations that exist at the midpoint of this continuum. The axon guidance factor Ephrin B2 and its receptor EphB4 are critical regulators of vasculogenesis in the developing central nervous system. Ephrin B2/EphB4 dysregulation has been implicated in the pathogenesis of arterial-derived arteriovenous malformations and vein-based vein of Galen malformations. Increasing evidence supports the hypothesis that aberrant Ephrin B2/EphB4 signaling may contribute to developing vascular malformations, but their role in CCMs remains largely uncharacterized. Evidence of Ephrin dysregulation in CCMs would be important to establish a common link in the pathogenic spectrum of EphrinB2/Ephb4 dysregulation. By studying patient-derived primary CCM endothelial cells (CCMECs), we established that CCMECs are functionally distinct from healthy endothelial cell controls; CCMECs demonstrated altered patterns of migration, motility, and impaired tube formation. In addition to the altered phenotype, the CCMECs also displayed an increased ratio of EphrinB2/EphB4 compared to the healthy endothelial control cells. Furthermore, whole exome sequencing identified mutations in both EphrinB2 and EphB4 in the CCMECs. These findings identify functional alterations in the EphrinB2/EphB4 ratio as a feature linking pathophysiology across the spectrum of arterial, capillary, and venous structural malformations in the central nervous system while revealing a putative therapeutic target.

01 Dec 2024·Molecular Genetics and Genomics

Delineation of the phenotypes and genotypes of PIK3CA-related overgrowth spectrum in East asians

Article

Author: Chen, Hongrui ; Liu, Hongyuan ; Lin, Xiaoxi ; Qiu, Yajing ; Hua, Chen ; Gao, Wei ; Sun, Bin

PIK3CA-related overgrowth spectrum (PROS) is an umbrella term to describe a diverse range of developmental disorders. Research to date has predominantly emerged from Europe and North America, resulting in a notable scarcity of studies focusing on East Asian populations. Currently, the prevalence and distribution of PIK3CA variants across various genetic loci and their correlation with distinct phenotypes in East Asian populations remain unclear. This study aims to elucidate the phenotype-genotype correlations of PROS in East Asian populations. We presented the phenotypes and genotypes of 82 Chinese patients. Among our cohort, 67 individuals carried PIK3CA variants, including missense, frameshift, and splice variants. Six patients presented with both PIK3CA and an additional variant. Seven PIK3CA-negative patients exhibited overlapping PROS manifestations with variants in GNAQ, AKT1, PTEN, MAP3K3, GNA11, or KRAS. An integrative review of the literature pertaining to East Asian populations revealed that specific variants are uniquely associated with certain PROS phenotypes. Some rare variants were exclusively identified in cases of megalencephaly and diffuse capillary malformation with overgrowth. Non-hotspot variants with undefined oncogenicity were more common in CNS phenotypes. Diseases with vascular malformation were more likely to have variants in the helical domain, whereas phenotypes involving adipose/muscle overgrowth without vascular abnormalities predominantly presented variants in the C2 domain. Our findings underscore the unique phenotype-genotype patterns within the East Asian PROS population, highlighting the necessity for an expanded cohort to further elucidate these correlations. Such endeavors would significantly facilitate the development of PI3Kα selective inhibitors tailored for the East Asian population in the future.

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Capillary Malformations, Congenital, 1

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