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Article
Open AccessTargeted therapy for capillary-venous malformations
Sporadic venous malformations are genetic conditions primarily caused by somatic gain-of-function mutation of PIK3CA or TEK, an endothelial transmembrane receptor signaling through PIK3CA. Venous malformations ar...
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Article
Genomic profiling informs diagnoses and treatment in vascular anomalies
Vascular anomalies are malformations or tumors of the blood or lymphatic vasculature and can be life-threatening. Although molecularly targeted therapies can be life-saving, identification of the molecular eti...
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Article
Open AccessConstitutively active PIK3CA mutations are expressed by lymphatic and vascular endothelial cells in capillary lymphatic venous malformation
Capillary lymphatic venous malformations (CLVM) are complex vascular anomalies characterized by aberrant and enlarged lymphatic and blood vessels. CLVM appear during fetal development and enlarge after birth, ...
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Chapter
Sirolimus for the Treatment of Vascular Anomalies
Vascular anomalies are tumors and malformations that are usually congenital in nature. With the improvement of the ISSVA classification system, the field is more precise in the phenotypes of these disorders. T...
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Article
Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations
The term “intramuscular hemangioma capillary type” (IHCT) refers to a fast-flow vascular lesion that is classified as a tumor, although its phenotype overlaps with arteriovenous malformation (AVM). The purpose...
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Article
Understanding the evolving phenotype of vascular complications in telomere biology disorders
Vascular complications such as bleeding due to gastrointestinal telangiectatic anomalies, pulmonary arteriovenous malformations, hepatopulmonary syndrome, and retinal vessel abnormalities are being reported in...
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Article
Open AccessA xenograft model for venous malformation
Vascular malformations are defects caused by the abnormal growth of the vasculature. Among them, venous malformation (VM) is an anomaly characterized by slow-flow vascular lesions with abnormally shaped veins,...
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Article
Angiopoietins as serum biomarkers for lymphatic anomalies
Vascular anomalies can cause significant morbidity and mortality. Advances in diagnosis will be improved if noninvasive biomarkers can be identified, as obtaining a tissue biopsy can worsen the disease and pre...
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Reference Work Entry In depth
Dynamic Infrared Thermography of Infantile Hemangiomas
Temperature distribution at the skin surface depends upon blood perfusion, metabolism, thermal conductivity, drug effects, sympathetic nervous system activity, and environmental conditions. Dynamic infrared (I...
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Article
Imaging evaluation of fetal vascular anomalies
Vascular anomalies can be detected in utero and should be considered in the setting of solid, mixed or cystic lesions in the fetus. Evaluation of the gray-scale and color Doppler US and MRI characteristics can...
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Living Reference Work Entry In depth
Dynamic Infrared Thermography of Infantile Hemangiomas
Temperature distribution at the skin surface depends upon blood perfusion, metabolism, thermal conductivity, drug effects, sympathetic nervous system activity, and environmental conditions. Dynamic infrared (I...
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Article
Additional imaging features of intramuscular capillary-type hemangioma: the importance of ultrasound
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Article
Prenatal diagnosis and postnatal follow-up of rapidly involuting congenital hemangioma (RICH)
The most common vascular tumors of infancy are hemangiomas. These are further classified as infantile or congenital. Infantile hemangiomas are not present at birth, go on to proliferate and then involute, wher...
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Article
Oligoclonal Expansion of CD45RO+ T Lymphocytes in Omenn Syndrome
Omenn syndrome comprises a rare form of combined immunodeficiency with TH2-type features of eosinophilia and elevated IgE. Previous studies have led to reports of restricted heterogeneity in the T lymphocyte repe...
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Article
CLONAL EXPANSION OF Vβ8+ T LYMPHOCYTES IN CHRONIC IMMUNE THROMBOCYTOPENIC PURPURA. • 892
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CLONAL EXPANSION OF CD45RO+ T LYMPHOCYTES IN OMENN SYNDROME.• 52