Purpose or Case Report: Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant disorder with variable phenotype caused by heterozygous inactivating mutations in the RASA1 gene located on chromosome 5. Clinical manifestations are variable with cutaneous multifocal capillary malformation associated with fast-flow lesions. Most of them are located in soft tissues (intramuscular, intraosseous, spinal or cerebral). Many authors reported the clinical spectrum or the genetic association but few data are available on the imaging characteristics or criteria to establish the diagnosis of AVM. The goal of this poster is to review the imaging characteristics in the RASA1 series of our institution and in particular to evaluate the distribution of patients having true AVMs versus capillary hypervascularity.
Methods & Materials: A retrospective study of clinical and imaging files was conducted for all patients seen in our vascular anomalies group with a genetic diagnosis confirmation of RASA1 mutation. Institutional approval was obtained from the IRB and all patients (or parents) signed an informed consent. We reviewed 9 cases (8F, 1M) with RASA1 mutations. Cutaneous capillary malformation aspect, color Doppler ultrasound and MR findings will be described. Lung AVM has never been reported in RASA1 except in our series.
Results:
Conclusions: Patients with RASA1 mutations have a wide spectrum of clinical manifestations. CM is the clue for the diagnosis, particularly if the CM has the pale halo. However, the AVM criterion for extracranial lesions has to be clarified. Most lesions in our series behave more like a capillary hypervascularization without AV shunting. Thus, the presence of extracranial/spinal true AVMs seems to be rare. The integration of genetic, clinical and imaging findings is important to have a better understanding of the disease and to offer the best treatment.