Airway Hemangiomas in PHACE Syndrome: A Multicenter Experience

Abstract

Objective To describe the prevalence and clinical characteristics of airway findings in a multi-institutional cohort of PHACE patients. Study Design Multicenter retrospective case series. Setting Multidisciplinary vascular anomalies clinics at 2 institutions. Methods Data were collected from the electronic medical record, including clinical presentation, airway findings, treatment, and outcomes. Results Of 55 PHACE patients, 22 (40%) had airway hemangiomas. Patients with airway involvement were more commonly female ( P = .034, odds ratio [OR] 23, 95% confidence interval [CI] 1.3-410) and of Caucasian ethnicity ( P = .020, OR 5.3, 95% CI 1.3-21). Anatomically, patients with bilateral S3 involvement had higher rates of airway disease ( P = .0012, OR 15, 95% CI 2.9-77). Most patients with airway hemangiomas had stridor (68%). Of the patients managed in the propranolol era (2008 or later, n = 35), 14 had airway involvement. All 14 were treated with propranolol, whereas 13 (62%) of 21 nonairway patients were treated with propranolol. The average treatment duration was longer in the airway patients (22.1 vs 16.7 months). All patients who underwent tracheostomy (n = 4) did so before 2008. Conclusion Risk factors for airway involvement in PHACE include female gender, Caucasian ethnicity, and stridor. Since the widespread use of propranolol, fewer patients have required surgical management of their airway disease. Given the high prevalence of airway involvement even in patients without stridor, assessment of the airway is a crucial component of a comprehensive PHACE workup.

MicroRNA‑203a‑3p suppresses endothelial cell proliferation and invasion, and promotes apoptosis in hemangioma by inactivating the VEGF‑mediated PI3K/AKT pathway

“…Furthermore, the PI3K/AKT pathway has been demonstrated to suppress hemangioma proliferation by downregulating the expression of proliferating cell nuclear antigen, which may further influence the progression of hemangioma ( 42 ). In the present study, it was found that the PI3K/AKT signaling pathway was regulated by miR-203a-3p in hemangioma, which was in line with the data previously reported in other tumors, such as renal cell carcinoma, papillary thyroid cancer and glioblastoma ( 10 , 43 , 44 ). In addition, it was confirmed that miR-203a-3p can directly suppress VEGFA expression and the PI3K/AKT pathway, which could suppress the proliferation of hemangioma, thereby uncovering the miR-203a-3pVEGFA/PI3K/AKT axis.…”

Management of Upper Airway Infantile Hemangiomas: Experience of One Italian Multidisciplinary Center

“…Only two out of 10 patients with large segmental IH of the face were diagnosed with PHACES syndrome compared to a higher percentage in literature data (47%) (4,6). When PHACES syndrome is suspected, it is necessary to perform a full workup, including cardiologic, ophthalmologic, and neurologic investigation with appropriate imaging (19).…”

“…PHACES syndrome is characterized by posterior fossa anomalies, IH, aortic, cardiac, and eye malformations, and sternal defect. Several studies reported its association with AIHs with variable percentages (16-50%) (4)(5)(6). AIHs usually involve the subglottis, which is the narrowest part of the pediatric airway and are mostly located in its left posterolateral part (7,8).…”

Operative Surveillance of Airway Hemangiomas in PHACE Syndrome

“…10 Airway hemangioma has been cited to be anywhere from 40% to 52% in the PHACE syndrome population. 9,11 Although the incidence of airway hemangiomas in general is well known in patients with PHACE syndrome, the incidence of specifically subglottic hemangioma in PHACE syndrome has not yet been described. Additionally, children with PHACE Syndrome also potentially have a poor response to propranolol, which is first line medical treatment and increased rebound growth after treatment completion which should be considered when these patients present with airway IH.…”