PHACE(S) syndrome

Heyer, Geoffrey L.

doi:10.1016/b978-0-444-62702-5.00012-3

Cited by 16 publications

(6 citation statements)

References 71 publications

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“…Posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies, and sternal anomalies (PHACES) syndrome is a neurocutaneous disorder with neurological, arterial, cardiothoracic, and ocular implications [1]. The acronym "PHACE" was first described by Frieden and colleagues and later changed to PHACES to include sternal defects, as identified by Boulinguez and colleagues in 1996 [2].…”

Section: Discussionmentioning

confidence: 99%

Faced with PHACES: A photo series of its progression and overview of clinical management

Banafshay,

Walterscheid,

Tarbox

2024

J Case Rep Images Pediatr

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Introduction: Posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies, and sternal anomalies (PHACES) syndrome is a rare, multi-system disorder. Case Report: We illustrate a case of a 1-month-old female who presented emergently with an enlarging, large, left-sided hemangioma segmentally distributed over the ophthalmic branch of the trigeminal nerve (V1) region prompting clinical concern for PHACES syndrome. Further workup was recommended to evaluate for extracutaneous involvement, which subsequently revealed coarctation of the aorta and multiple arterial abnormalities. Conclusion: The vast array of potential, devastating complications linked to PHACES syndrome highlights the importance of prompt identification when confronted with hemangiomas, especially in the pediatric population. We further present a photo series demonstrating the evolution of our patient’s infantile hemangioma from its subtle initial stages through its rapid evolution leading to her emergent presentation, emphasizing the importance of early clinical suspicion and intervention.

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Section: Discussionmentioning

confidence: 99%

Faced with PHACES: A photo series of its progression and overview of clinical management

Banafshay,

Walterscheid,

Tarbox

2024

J Case Rep Images Pediatr

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“…The place of imaging examinations is not clearly codified in the literature. Regular clinical follow-up is still recommended throughout life [ 1 , 5 ].…”

Section: Discussionmentioning

confidence: 99%

“…The treatment duration will depend on the progression of each IH. In the case of cerebral vascular disease, neurosurgical treatments should be appropriate [ 5 , 6 ].…”

Section: Discussionmentioning

confidence: 99%

Phace Syndrome in Children: Two Case Reports

Imrani

Haddad

Allali

et al. 2021

Radiology Case Reports

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PHACE(S) syndrome combines: posterior fossa brain malformations, face hemangioma, arterial cerebrovascular abnormalities, cardiovascular abnormalities, eye abnormalities, and ventral developmental defects (Sternal defects or supra-umbilical rope). The diagnosis is based on the association of an infant hemangioma exceeding 5cm in size on the face, neck, scalp with 1 major criteria or 2 minor criteria. Imaging, especially Gadolinium MRI and MRA of the brain, neck, and aortic arch, transthoracic echocardiography, or even cardiac MRI play a key role in the detection of associated neurological and cardiovascular abnormalities. We report 2 cases of PHACE syndrome revealed by 2 different clinical presentations.

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“…PHACE syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects and Coarctation of the aorta, Eye anomalies) is characterized by segmental infantile hemangiomas of the head and neck that are associated with developmental defects, such as sternal defects and supraumbilical raphe (Figure 5). 3,51,52 Cerebrovascular anomalies are the predominant extracutaneous features of PHACE 53 associated with significant morbidity. 54 Criteria for definite PHACE diagnosis include a hemangioma >5 cm in diameter of the head including scalp and 1 major criteria or 2 minor criteria.…”

Section: Phace Syndromementioning

confidence: 99%

Dermatologic manifestations of pediatric cardiovascular diseases: Skin as a reflection of the heart

Jones

Patel

Valikodath

et al. 2021

Pediatric Dermatology

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Often dermatologists are the first providers to examine patients presenting with cutaneous manifestations of an occult cardiovascular disease. Significant morbidity and mortality exist between conditions with comorbid cardiovascular and cutaneous findings, and clinicians should be cognizant of such associations. From a cardiology standpoint, an initial workup will vary based on the reason for referral but frequently consists of upper and lower extremity blood pressure, a focused history of present illness (ie, associated symptoms of exertional chest pain, exertional syncope or syncope of unknown etiology, positional chest pain), family history (rule out cardiomyopathy, sudden cardiac death, etc), and a focused physical examination with an emphasis on cardiopulmonary systems. If any concerning findings are present, a complete echocardiogram will be performed to assess for pathology, which will guide the next steps. Given the care needed to treat these patients, this review aims to provide the tools needed to aid dermatologists in detecting underlying cardiovascular diseases by their associated cutaneous findings. | CONG ENITAL C ARDIOVA SCUL AR DISE A SE | RAS/MAPK pathway disordersRas is a small but important GTPase that induces the mitogen-activated protein kinase (MAPK) cascade, a critical mechanism for all cells during embryological development. Dysregulation of the Ras-MAPK pathway leads to the characteristic craniofacial phenotypes with underlying cardiac, cutaneous, musculoskeletal, and ocular abnormalities.Mutations in the Ras/MAPK pathway result in numerous syndromes, the most common of which include Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, neurofibromatosis type 1, and Noonan with multiple lentigines. These are discussed below. | Noonan syndromeNoonan syndrome (NS) is characterized by congenital heart defects and cutaneous manifestations, among other clinical findings. 1,2 The

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PHACE(S) syndrome

Cited by 16 publications

References 71 publications

Faced with PHACES: A photo series of its progression and overview of clinical management

Faced with PHACES: A photo series of its progression and overview of clinical management

Phace Syndrome in Children: Two Case Reports

Dermatologic manifestations of pediatric cardiovascular diseases: Skin as a reflection of the heart

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