Lymphatic research and biology
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Lymphedema, defined as the abnormal accumulation of protein-rich fluid in soft tissues, results from the dysfunction of lymphatic system, an imbalance between lymph formation and its absorption into the initial lymphatics. Primary lymphedema occurs rarely on idiopathic or developmental abnormalities, especially hypoplasia or aplasia of lymphatics. Secondary lymphedema commonly develops when lymph transport is impaired due to lymphatic damage or resection of lymph nodes in surgery, infection, and radiation. ⋯ FOXC2 may have a key role in regulating interactions between LECs and smooth muscle cells, and in the morphogenesis of lymphatic valves. Reduced VEGFR-3 tyrosine kinase activity and subsequent failure in transducing sufficient physiological VEGF-C/-D signals may affect LEC function and structure in the intercellular junctions and peri-lymphatic components. Identification of genetic markers in humans and animal models would facilitate the management of environmental factors influencing the expression and severity of lymphedema, and provide a basis for developing novel targeted therapies for the disease.
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Consanguinity allows for the expression of rare genetic disorders. We present the first case of an infant, born to consanguineous parents, with congenital lamellar ichthyosis, congenital lymphatic malformation, congenital hypothyroidism, bilateral megaureter, benign external hydrocephalus, and syrinx of the spinal cord. We review the disorders, examine their genetic causes, and explore the genetic connection among them.