通过一例法洛四联症患者心得安停药反应揭露的PHACES 综合征：案例报告及对β-受体阻断药的综合述评

Title:A PHACES Syndrome Unmasked by Propranolol Interruption in a Tetralogy of Fallot Patient: Case Report and Extensive Review on New Indications of Beta Blockers

Volume: 21 Issue: 27

Author(s): G. Bronzetti, A. Patrizi, F. Giacomini, F. Savoia, B. Raone, M. Brighenti, M. Bonvicini, I. Neri and G.D. Gargiulo

Affiliation:

关键词: 呼吸道血管瘤，颌面血管瘤，β-受体阻断剂，PHACES综合征，心得安，声门下血管瘤

摘要: Infantile hemangiomas (IHs) are the most common benign tumors of infancy and usually they don't require specific therapy. In 10-20% of cases IHs are able to generate complication and medical/surgical intervention is needed. For many decades standard treatment consisted in oral or intralesional corticosteroids until Leaute-Labreze and colleagues published the first report on the efficacy of propranolol for cutaneous infantile hemangiomas in 2008. IHs can be sometimes part of complex syndrome. Here we report the case of a patient with tetralogy of Fallot operated at 5 month of age who stopped propranolol treatment for hypoxic spells and unusually developed facial and subglottic IHs configuring the diagnosis of PHACES syndrome (posterior fossa brain malformations, hemangioma, arterial anomalies, cardiac defects and/or aortic coarctation, ocular anomalies and sternal defects). To our knowledge this is the first report in the international literature of a delayed appearance of an infantile hemangioma involving the skin and the airways (PHACES syndrome). The pathophysiological explanation relies on the mechanism of action of propranolol which seems to act initially with vasoconstriction, down-regulating proangiogenetic factors and inducing endothelial cell apoptosis. Many decades since their introduction β-blockers are useful in a growing group of diseases. The pleiotropic effect of β-adrenoceptors antagonists is not yet deeply understood, residing in neurohormonal regulation systems and angiogenesis and proving to be an effective treatment from cardiovascular to oncological illnesses.

Cite this article as:

Bronzetti G., Patrizi A., Giacomini F., Savoia F., Raone B., Brighenti M., Bonvicini M., Neri I. and Gargiulo G.D., A PHACES Syndrome Unmasked by Propranolol Interruption in a Tetralogy of Fallot Patient: Case Report and Extensive Review on New Indications of Beta Blockers, Current Medicinal Chemistry 2014; 21 (27) . https://dx.doi.org/10.2174/0929867321666140304094345