“Face(s)” of a PHACE(S) Syndrome Patient before and after Therapy: Particular Case Report and Review of Literature

Abstract

A rare, uncommon disorder called PHACE(S) (P-posterior fossa anomalies, H-hemangioma, A-arterial anomalies, C-cardiac anomalies, E-eye anomalies, and S-sternal cleft) of unknown etiology was rarely reported. Children are susceptible to developing PHACE(S) syndrome from the moment they are born. It may be challenging for a physician to appropriately diagnose and treat children with PHACE due to the multifaceted nature of the disease and the extensive range of consequences that may be associated with it. A one-month-old newborn girl was admitted to hospital with extensive, multiple facial infantile hemangiomas, ulceration of the lower lip hemangioma-like lesion, cardiovascular, sternal, and neurological concomitant malformations. Five days following the initial application of the medication, systemic treatment with propranolol and topical treatment with silver sulfadiazine produced their first noticeable benefits. The lip ulceration was mostly healed and facial hemangioma started to regress. The regression continued under therapy and this effect persists for 6 months since Propranolol therapy ended. No cardiovascular or neurological clinical events have been registered during follow-up. The present case has three peculiarities: (1) high number of facial hemangiomas; (2) presence of subependymal cyst not yet reported in the literature associated with PHACE syndrome; and (3) lack of cardiovascular events during therapy knowing that these events frequently appear in PHACE syndrome patients.

Genetic Inactivation of the β1 adrenergic receptor prevents Cerebral Cavernous Malformations in zebrafish

“…Taken together, these data suggest that reduced blood flow secondary to reduced cardiac function accounts for the protective effect of loss of β1AR signaling on CVP lesions and on CCM. Importantly, although β1AR are highly expressed in cardiomyocytes and contribute to increased cardiac output 23 , β1ARs are also expressed in other tissues 24,25 including endothelial cells of vascular anomalies in patients 26 . Thus, future studies will be required to define the tissue specificity of the role of the β1AR in CCM pathogenesis.…”