Identification of Genetic and Cellular Markers Associated With Vascular Endothelial Modifications in Cutaneous Arteriovenous Malformations
Identification of Genetic and Cellular Markers Associated With Vascular Endothelial Modifications in Cutaneous Arteriovenous Malformations
Cutaneous Arteriovenous malformations (AVM's) rare congenital high-flow vascular
 malformations in which arteries and veins are directly connected through a complex web of
 abnormal arteries and veins instead of a normal capillary network. Arterial feeders and
 enlarged draining veins directly connect through arteriovenous fistulas that create the
 "nidus". The natural history of AVMs is organized into a clinical staging system: during the
 first phase of quiescence, the arteriovenous malformation mimics a capillary malformation.
 After many years, the AVM may enlarge with loco-regional expansion and tissular destruction.
 At the ultimate stage, AVM may impact the heart function. They are considered non malignant
 but can expand and become a significant clinical risk when extensive. The management of these
 high flow AVM remains often problematic. Complete and large surgical excision of the nidus
 after hyperselective embolization is the only potential therapeutic solution but this, is
 often difficult if not impossible. There is no pathogenetic hypothesis for the development of
 these malformations. Histopathological examination (performed only on surgical resection
 specimen) is poor and does not provide sufficient evidence to assess the evolutivity or the
 severity of the MAV. Recent data hypothesize that these vascular malformations are associated
 with alterations of the vascular endothelium caused by genetic abnormalities involved in the
 control of angiogenesis and vascular homeostasis. The detection of these anomalies allows the
 search for cellular and genetic markers that might be useful to optimize the clinical
 classification, staging, predicting the evolution of these defects and some understanding of
 its pathophysiological mechanisms. To our knowledge, no studies to identify cellular markers
 / genetic and endothelial associated with the development of cutaneous AVMs have been
 published to date.
Inclusion Criteria:

 -  Male or feminine Subject

 -  Subject of 10 and more years old,

 -  Subject weighing more than 55 kg. patients:

 -  Subject presenting a cutaneous artério-venous deformation there outside of any other
 deformation or known vascular tumor.

 -  Subject presenting no other susceptible pathology to influence endothéliaux markers
 (Renal insufficiency, inflammatory pathology chronicles, infections, pathologies
 cardiovascular, diabetes, evolutionary tumoral pathology).

 volunteers:

 -  Unhurt Subject of deformation or vascular tumor.

 -  Subject presenting no other susceptible pathology to influence endothéliaux
 markers(scorers) (Renal insufficiency, inflammatory pathology chronicles, infections,
 pathologies cardiovascular).

 Exclusion Criteria:

 -  Subject of less than 10 years old

 -  Subject weighing less than 55 kg

 -  Subject presenting another type(chap) of vascular vascular deformation or tumor