Natural history of PHACE syndrome: A survey of adults with PHACE

Stefanko, Nicole; Cossio, M; Powell, Julie; Blei, Francine; Davies, Olivia M. T.; Frieden, Ilona J.; Garzon, María C.; Lauren, Christine T.; Maheshwari, Mohit; McCuaig, Catherine; Metry, Denise; Salman, Sumaiya S.; Drolet, Beth A.; Siegel, Dawn H.

doi:10.1111/pde.13871

Cited by 17 publications

(8 citation statements)

References 22 publications

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“…In our population, four patients underwent surgery, of which three were initially treated with steroids, delaying the introduction of propranolol. In Stefanko's survey of adults with PHACES, 24 50% of the 24 patients examined had undergone numerous laser treatments, which is quite consistent with our study. However, 44% of patients in their study had at least one plastic surgery performed, far higher than observed in our population.…”

Section: Discussionsupporting

confidence: 91%

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Segmental facial infantile haemangiomas in the era of propranolol: evaluation at 6 years of age

Letertre

Boccara

Prey

et al. 2022

Acad Dermatol Venereol

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Background The long‐term evolution of children with segmental facial infantile haemangioma (SFIH) treated with propranolol remains unstudied. Objectives The objective of this study was to evaluate the neurodevelopmental features of children with SFIH treated with propranolol at 6 years of age. Methods This retrospective case series study was conducted from January 2008 to June 2020 using data from medical files, patient examinations and appointments spanning 6 years. To be included, patients should present SFIH and have previously received propranolol. A complete physical examination, magnetic resonance imaging (MRI) of the head, echocardiography and ophthalmologic examination should have been performed. Neurodevelopmental features were divided into cognition, audition, vision, orality, motor skills and the occurrence of new symptoms. Results Thirty children with SFIH were included. Of these, 11 presented criteria of PHACES. Evaluation of neurodevelopmental features of the children at 6 years of age showed learning difficulties in one case but grade skipping in three cases. There were six cases of unilateral hearing loss that had not been diagnosed at birth, two of oral difficulties and one of minor hypotonia. Early headache was primarily reported as the main new outcome. All children were treated with propranolol, with three following oral steroid therapy. No severe adverse effects were reported. The median length of treatment with propranolol was 16 months, and the median age at treatment cessation was 21 months. Analysis based on segment implication showed the median length of treatment to vary from 12 months (if S3 was spared) to 25 months (if at least S3 was involved). Vascular laser therapy was used in 16 patients (53.3%) and surgery in four. Conclusion In this case series, children with SFIH, including patients with PHACES criteria, presented a good tolerance of propranolol, as well as encouraged neurodevelopmental data. Segmental implication appears to have a significant impact on treatment duration and associated complications.

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Section: Discussionsupporting

confidence: 91%

“…In 2019, Stefanko et al 24 . published the first survey of adults with PHACES syndrome, including 18 patients ranging from 18 to 59 years of age.…”

Section: Discussionmentioning

confidence: 99%

Segmental facial infantile haemangiomas in the era of propranolol: evaluation at 6 years of age

Letertre

Boccara

Prey

et al. 2022

Acad Dermatol Venereol

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“… 2 As existing PHACE cohorts reach adolescence and adulthood, these complications of PHACE are increasingly being recognised and include migraine-like headaches, 3 TIAs, AIS, 7 MMV 4 and rarely arterial dissection. 5 Although we know patients are at increased risk of these emerging neurovascular-related morbidities, very little is known about the nature of the arteriopathy (ie, no good imaging and no pathology).…”

Section: Discussionmentioning

confidence: 99%

“… 1 Cerebral and cervical arterial abnormalities are the most common non-cutaneous anomaly in PHACE syndrome occurring in over 85% of patients, including vessel narrowing, dysgenesis, anomalous course and/or origin, and non-visualisation. 2 These neurovascular anomalies predispose infants and children to highly morbid complications including headaches, 3 moyamoya vasculopathy (MMV), 4 arterial dissection, 5 6 transient ischaemic attacks (TIAs) and arterial ischaemia stroke (AIS). 7 While there is anecdotal evidence that progressive vascular narrowing and vessel wall abnormalities may be a factor in these neurovascular complications, no study or case report to date has characterised the vessel wall in PHACE syndrome, specifically not in a case of PHACE syndrome with documented, progressive vascular stenosis.…”

Section: Introductionmentioning

confidence: 99%

Utilisation of advanced MRI techniques to understand neurovascular complications of PHACE syndrome: a case of arterial stenosis and dissection

Eisenmenger¹,

Rivera‐Rivera

Johnson³

et al. 2020

BMJ Case Rep

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PHACE syndrome is a rare disorder with posterior fossa brain malformations, segmental infantile haemangiomas, arterial anomalies, cardiac defects and eye anomalies. Cerebral and cervical arterial abnormalities occur commonly in these patients, predisposing subjects with PHACE syndrome to neurovascular complications including migraine-like headaches, moyamoya vasculopathy, arterial dissection and arterial ischaemia stroke. We leveraged institutional MRI protocols developed for adult neurovascular disease to better elucidate the pathogenesis of the arterial alternations observed in PHACE. Using high-resolution vessel wall and 4D flow MRI, we demonstrated enhancement, focal dissection and altered blood flow in a 7-year-old girl with PHACE syndrome. This is the first-time vessel wall imaging has been used to detail the known arterial changes in PHACE, and these findings may indicate that progressive vascular narrowing and vessel wall changes/inflammation are a factor in chronic headaches and other arterial complications seen in subjects with PHACE syndrome.

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“…However, the study did not distinguish between the experience of the transgender participant and other participants. 67…”

Section: Epilepsymentioning

confidence: 99%

Sexual and Gender Minority Health in Neurology

et al. 2021

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ittle is known about the neurologic health needs of sexual and gender minority (SGM) individuals (ie, those in the lesbian, gay, bisexual, transgender, and queer [LGBTQ+] spectrum). Understanding an individual's identity is essential for patientcentered communication, which improves patient satisfaction and reduces health disparities. SGM identity directly impacts a variety of neurologic conditions, including epilepsy, 1 dementia, 2 and stroke. 3,4 Neurologists receive little to no dedicated SGM health training, 5 which may lead to conscious or unconscious behaviors that contribute to existing disparities. 6 A 2018 study 3 of US neurologists, for example, found that while most reported comfort in caring for SGM individuals, fewer demonstrated SGM-related medical knowledge. Nearly half of respondents believed that sexual orientation and gender identity had no bearing on the management of neurologic illness. 3 This scoping review seeks to describe the cur-rent state of science in SGM health in neurology to highlight areas of knowledge and gaps to inform future research. MethodsGuided by an experienced medical librarian (E.W.), we developed, tested, and finalized a PubMed search using medical subject headings and keywords with SGM descriptors 7 and neurologic disorders (eAppendix 1 in the Supplement). The disorders were compiled based on clinical expertise, the National Institute of Neurologic Disorders and Stroke website, 8 and prior research. 9 This search was modified for Embase, Web of Science, PsycInfo, Cumulative Index to Nursing and Allied Health Literature (CINAHL), and BIOSIS Previews. IMPORTANCE Little is known about the neurologic health needs of sexual and gender minority (SGM) individuals, and existing research indicates health care disparities for this group. OBJECTIVE To describe the current state of science in SGM neurology and highlight areas of knowledge and gaps to guide future research.EVIDENCE REVIEW All articles published before April 12, 2020, in PubMed, Embase, Web of Science, PsycInfo, CINAHL, and BIOSIS Previews were searched using a search string encompassing SGM descriptors and neurologic disorders. A total of 8359 items were found and entered into EndNote, and 2921 duplicates were removed. A blind title and abstract review was performed followed by full-text review in duplicate, with conflicts settled through consensus, to identify 348 articles eligible for data abstraction. Articles presenting primary data about an identified adult SGM population addressing a clinical neurology topic were included. Descriptive statistics were used for abstracted variables.FINDINGS Of 348 studies, 205 (58.9%) were case reports or series, 252 (72.4%) included sexual minority cisgender men, and 247 (70.9%) focused on HIV. An association was found between autism spectrum disorder and gender dysphoria in 9 of 16 studies (56.3%), and a higher risk of ischemic stroke in transgender women was shown in other studies. Literature in neuroinfectious disease, the most common topic, largely focused on HIV (173 of 200...

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Natural history of PHACE syndrome: A survey of adults with PHACE

Cited by 17 publications

References 22 publications

Segmental facial infantile haemangiomas in the era of propranolol: evaluation at 6 years of age

Segmental facial infantile haemangiomas in the era of propranolol: evaluation at 6 years of age

Utilisation of advanced MRI techniques to understand neurovascular complications of PHACE syndrome: a case of arterial stenosis and dissection

Sexual and Gender Minority Health in Neurology

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