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Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
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Arteriovenous Malformations of the Head and Neck: Natural History and Management
&NA; This is a retrospective review of 81 patients with extracranial arteriovenous malformation of the head and neck who presented to the Vascular Anomalies Program in Boston over the last 20 years.…
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Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
TLDR
A newly identified association caused by RASA1 mutations is named "CM-AVM," for capillary malformation-arteriovenous malformation, which can be explained by the involvement of p120-RasGAP in signaling for various growth factor receptors that control proliferation, migration, and survival of several cell types, including vascular endothelial cells.
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Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.
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Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.
TLDR
This is a review of recommendations for diagnostic criteria, differential diagnosis, and guidelines for the evaluation of patients on Proteus syndrome held in March 1998 at the National Institutes of Health.
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Sclerotherapy of craniofacial venous malformations: complications and results.
TLDR
Sclerotherapy with ethanol or sodium tetradecyl sulfate is an effective and safe treatment for craniofacial venous malformations and only male sex and number of sclerotherapeutic procedures were significant multivariate predictors of outcome.
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TFAP2A mutations result in branchio-oculo-facial syndrome.
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Vascular Dysmorphogenesis Caused by an Activating Mutation in the Receptor Tyrosine Kinase TIE2
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Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast‐flow vascular anomalies are caused by RASA1 mutations
TLDR
This first extensive study on the phenotypes associated with RASA1 mutations, and unravels their wide heterogeneity is reported, finding some CM‐AVM patients had neural tumors reminiscent of neurofibromatosis type 1 or 2.
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Thrombocytopenic Coagulopathy (Kasabach‐Merritt Phenomenon) Is Associated with Kaposiform Hemangioendothelioma and Not with Common Infantile Hemangioma
TLDR
Variable response to current pharmacologic therapy underscores inadequate knowledge of the pathogenesis of thrombocytopenia in KHE.
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