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

Content Provider	Europe PMC
Author	Stănciulescu, Maria-Corina Dorobantu, Florica Ramona Boia, Eugen Sorin Popoiu, Marius-Călin Cerbu, Simona Heredea, Rodica Iacob, Emil Radu Cimpean, Anca Maria Caplar, Borislav Dusan Popoiu, Anca Voichita
Editor	Tierney, Seda Selamet
Copyright Year	2022
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.
Volume Number	9
PubMed Central reference number	PMC9776585
Issue Number	12
PubMed reference number	36553413
Journal	Children (Basel)
e-ISSN	22279067
DOI	10.3390/children9121970
Language	English
Publisher	MDPI
Publisher Date	2022-12-15
Access Restriction	Open
Rights License	Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). © 2022 by the authors.
Subject Keyword	PHACE(S) infantile hemangiomas propranolol therapy
Content Type	Text
Resource Type	Article
Subject	Pediatrics, Perinatology and Child Health