Epidemiology, Clinical Features, and Use of Early Supportive Measures in PHACE Syndrome: A European Multinational Observational Study

Disse, Sigrid C.; Toelle, Sandra P.; Schroeder, Simone; Theiler, Martin; Weibel, Lisa; Broser, Philip J.; Langner, Cornelia; Siegel, Dawn H.; Brockmann, Knut; Schoenfelder, Ines; Meyer, Sascha

doi:10.1159/000508187

Cited by 4 publications

(4 citation statements)

References 27 publications

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“…9 A third of patients with a large facial IH are diagnosed with PHACE(S) syndrome with the extent of the facial IH correlating with the number of affected organs with anomalies. 10 Considering the sternal anomalies that are observed, it is hypothesized that this syndrome starts in utero around 6-9 weeks of gestation. 11 The exact cause is not known.…”

Section: Phace(s) Syndromementioning

confidence: 99%

“…Association of posterior fossa brain malformations, segmental facial hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and sternal clefting or supraumbilical raphe is called PHACE(S) syndrome 9 . A third of patients with a large facial IH are diagnosed with PHACE(S) syndrome with the extent of the facial IH correlating with the number of affected organs with anomalies 10 …”

Section: Genetic Mutations and Signaling Pathways In Vascular Anomaliesmentioning

confidence: 99%

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Molecular pathways and possible therapies for head and neck vascular anomalies

Coulie

Boon

Vikkula

2022

J Oral Pathology Medicine

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Vascular anomalies are a heterogenous group of vascular lesions that can be divided, according to the International Society for the Study of Vascular Anomalies Classification, into two main groups: vascular tumors and vascular malformations. Vascular malformations can be further subdivided into slow-flow and fast-flow malformations. This clinical and radiological classification allows for a better understanding of vascular anomalies and aims to offer a more precise final diagnosis. Correct diagnosis is essential to propose the best treatment, which traditionally consists of surgery, embolization, or sclerotherapy. Since a few years, medical treatment has become an important part of multidisciplinary treatment. Genetic and molecular knowledge of vascular anomalies are increasing rapidly and opens the door for a molecular classification of vascular anomalies according to the underlying pathways involved. The main pathways seem to be PI3K/AKT/mTOR and RAS/RAF/MEK/ERK. Knowing the underlying molecular cascades allows us to use targeted medical therapies. The first part of this article aims to review the vascular anomalies seen in the head and neck region and their underlying molecular causes and involved pathways. The second part will propose an overview of the available targeted therapies based on the affected molecular cascade. This article summarizes theragnostic treatments available in vascular anomalies.

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Section: Phace(s) Syndromementioning

confidence: 99%

Section: Genetic Mutations and Signaling Pathways In Vascular Anomaliesmentioning

confidence: 99%

Molecular pathways and possible therapies for head and neck vascular anomalies

Coulie

Boon

Vikkula

2022

J Oral Pathology Medicine

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“…PHACE syndrome is occasionally associated with endocrine dysfunctions [ 5 ], Moyamoya vasculopathy [ 6 , 7 ], hearing loss [ 8 , 9 , 10 ], or genetic syndromes [ 11 ]. According to the PHACE Syndrome International Clinical Registry and Genetic Repository (USA, 12), a small number of cases have been reported in Europe, limiting the prevalence of the disease and its specific features to a small case series [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2022

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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.

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“…A rare disease is defined as a disease with <5 affected individuals in 10.000 people ( 1 , 2 ). However, as a whole, rare diseases are not as rare as one might think.…”

Section: Introductionmentioning

confidence: 99%