Arteriovenous Malformation: A Rare Manifestation of PHACE Syndrome
ABSTRACT We present two cases of PHACE syndrome (an acronym for the neurocutaneous association of posterior fossa defects, hemangiomas, arterial anomalies, cardiac anomalies, and eye defects) associated with arteriovenous fistulae/malformation (AVF/AVM). While cerebral arterial anomalies are a main feature of this syndrome, the diagnostic criteria do not include AVF/AVM. To our knowledge, our cases are the fifth and sixth reported cases of PHACE syndrome and AVF/AVM occurring in the same patient. Given the rarity of both PHACE syndrome and AVM, and the known relationship between cerebrovascular anomalies and segmental infantile hemangioma, we suggest that the simultaneous occurrence in these patients is related.
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ABSTRACT: PHACES syndrome is a pediatric syndrome with cutaneous and extra-cutaneous manifestations, such as Posterior fossa defects, Hemangiomas, Arterial lesions, Cardiac abnormalities/aortic coarctation, Eye abnormalities and Sternal cleft. Facial hemangiomas affect the 75% of patients and may arise on the oral mucosa or perioral cutaneous regions. In this study we treated 26 Intraoral Haemangiomas (IH) and 15 Perioral Haemangiomas (PH) with diode laser photocoagulation using a laser of 800+/-10nm of wavelength. For IH treatment an optical fiber of 320 μm was used, and the laser power was set ted at 4 W (t-on 200 ms / t-off 400ms; fluence: 995 J/cm2). For PH treatment an optical fiber of 400 μm at the power of 5 W was used (t-on 100 ms / t-off 300 ms; fluence: 398 J/cm2). IH healed after one session (31%), the other (69%) after two sessions of Laser therapy. In each session, only a limited area of the PH was treated, obtaining a progressive improvement of the lesion. Diode laser photocoagulation is an effective option of treatment for IH and PH in patients affected by PHACE because of its minimal invasiveness. Moreover laser photocoagulation doesn't have side effects and can be performed repeatedly without cumulative toxicity. Nevertheless, more studies are required to evaluate the effectiveness of the therapy in mid and long time period.Proceedings of SPIE - The International Society for Optical Engineering 12/2013; DOI:10.1117/12.2044045 · 0.20 Impact Factor
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ABSTRACT: Vascular anomalies of the head and neck are among the most common abnormalities in the pediatric population. The inherent conspicuity of these often pigmented lesions can be alarming for parents, and while generally benign, they can provide a diagnostic and therapeutic challenge for clinicians. Numerous colloquial terms have been used to describe vascular anomalies on the basis of clinical appearance or histopathology. Despite an international consensus on nomenclature to describe these lesions, published in the early 1990s, inconsistent and incorrect usage of these terms continues to this day, potentially leading to inappropriate clinical management. Many imaging modalities have been used for diagnosis, but ultrasonography and MR imaging appear to be the most valuable, and vascular/interventional radiology has a clear role in the diagnosis and treatment of many lesions. The aim of this review is the following: 1) to describe the internationally accepted classification system designed to categorize vascular anomalies, 2) to discuss the clinical features and management of these lesions, and 3) to describe the classic imaging features that allow differentiation of various vascular anomalies of the pediatric population.03/2014; 4(1). DOI:10.3174/ng.1140070
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ABSTRACT: Propranolol has replaced corticosteroids as preferred first-line therapy for the management of infantile hemangiomas (IH). The topical β-blocker timolol is now an alternative to oral propranolol and watchful waiting for smaller IH. Research in the last decade has provided evidence-based data about natural history, epidemiology, and syndromes associated with IH. The most pressing issue for the clinician treating children with IH is to understand current data to develop an individualized risk stratification for each patient and determine the likelihood of complications and need for treatment. This article emphasizes the nuances of complicated clinical presentations and current treatment recommendations.Pediatric Clinics of North America 04/2014; 61(2):383-402. DOI:10.1016/j.pcl.2013.11.010 · 2.20 Impact Factor