Vascular and Lymphatic Malformations: Perspectives From Human and Vertebrate Studies

Abstract

Vascular malformations, affecting ≈1% to 1.5% of the population, comprise a spectrum of developmental patterning defects of capillaries, arteries, veins, and/or lymphatics. The majority of vascular malformations occur sporadically; however, inherited malformations exist as a part of complex congenital diseases. The malformations, ranging from birthmarks to life-threatening conditions, are present at birth, but may reveal signs and symptoms—including pain, bleeding, disfigurement, and functional defects of vital organs—in infancy, childhood, or adulthood. Vascular malformations often exhibit recurrent patterns at affected sites due to the lack of curative treatments. This review series provides a state-of-the-art assessment of vascular malformation research at basic, clinical, genetic, and translational levels.

Cystic hygroma of the neck – case report

“…Nowadays, another classification was added to this widely used classification, according to the microscopic aspect: lymphangioma simplex (lymphangioma circumscriptum ), characterized by the presence of thin-walled lymphatic vessels; cavernous lymphangioma, characterized by dilated lymphatic vessels; cystic lymphangioma (CH), with huge, macroscopic lymphatic spaces; and benign acquired progressive lymphangioma, in which the lymphatic channel dissects the dense collagen bundles [ 27 ].…”

Lymphatic System in Organ Development, Function, and Regeneration

“…The lymphatic system is essential in organ development, growth, function, and regeneration. 26 Future studies utilizing state-of-the-art genomic, proteomic, and imaging approaches at a single-cell level will likely advance our understanding of the lymphatic system in health and in disease. In the 21st century, new diagnostic and therapeutic approaches are warranted to treat organ-specific lymphatic diseases.…”

Cation Channelopathies: Novel Insights into Generalized Lymphatic Dysplasia

“…2 Beyond Gaspare Aselli’s anatomic description of lymphatic vessels in 1622, modern biomedical research has identified the molecular framework underlying lymphatic endothelial cell structure and function in development and disease. 3,4 In the capillary vascular bed, arterial and venous pressure gradient differences generate net fluid flux out of circulation (Ernest Starling’s equation) into the interstitium leading to interstitial fluid (lymph) accumulation. Lymphatic capillaries collect excess interstitial fluid and transport it to the subclavian vein via the thoracic duct.…”

“…4 Developmental lymphatic malformations or structural/functional lymphatic defects secondary to diseases cause aberrant accumulation of interstitial fluid, leading to primary or secondary lymphedema. 3…”

“…14,15 The lymphatic system relies on intraluminal valves to ensure a unidirectional flow of lymph, and valve dysfunction leads to disrupted fluid homeostasis and lymphatic disease. 3 In vitro experiments on cultured human lymphatic endothelial cells revealed that PIEZO1 is required for oscillatory shear stress–mediated upregulation of lymphatic valve–specific genes, including FOXC2, GATA2, CX37, and LAMA5 . 15 These studies showed defective or missing lymphatic valves as a primary mechanism for Piezo1-related generalized lymphatic dysplasia.…”