– A síndrome PHACE é um distúrbio raro da vasculogênese que ocorre durante o primeiro trimestre da gravidez. O distúrbio comumente se apresenta com anomalias cerebrais da fossa posterior e coarctação da aorta/anomalias arteriais e é predominantemente observado em pacientes do sexo feminino. A síndrome PHACE(S) é também uma síndrome neurocutânea a ser suspeitada quando são observados hemangiomas cutâneos extensos que afetam o rosto. Os β-bloqueadores são a primeira linha no tratamento dos hemangiomas cutâneos, mas nesses pacientes, se estabelecidos, é essencial a triagem prévia de possíveis malformações cerebrovasculares e cardíacas. A  sigla PHACE significa a associação de malformações da fossa posterior, hemangiomas cervicofaciais, anomalias arteriais, coarctação e anomalias oculares.

 

■ PHACE syndrome in children: two case reports

kaoutar Imrani, Siham El Haddad, Nazik Allali, Latifa Chat

Radiol Case Rep. 2021 Dec; 16(12): 3882–3886

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8523872/

 

■ PHACE syndrome presenting with retinal degeneration, cortical dysplasia, microphthalmia, and atrial septal defect. In a South Asian Boy

Kavinda Dayasiri, Vijayakumary Thadchanamoorthy

Cureus. 2021 Jan; 13(1): e12928

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7907719/

 

■ Facing PHACE twenty-five Years later

M T Braun, E F Mathes, D H Siegel et al

Journal of Vascular Anomalies 2021, vol 2 (4): e027

https://journals.lww.com/jova/Fulltext/2021/12000/Facing_PHACE_Twenty_five_Years_Later__Review_and.2.aspx

 

■ Arterial spin-labeling perfusions for PHACE syndrome

M M Mamlouk, A Vossough, L Caschera et al

AJNR Am J Neuroradiol 2021, vol 42 (1): 173-177

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7814806/

 

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

Laura B Eisenmenger, Leonardo A Rivera-Rivera, Kevin M Johnson, Beth A Drolet

BMJ Case Rep. 2020; 13(9): e23599

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7490943/

 

■ Dental root abnormalities in four children with PHACE syndrome

MJ Youssef, DH Siegel, YE Chiu, BA Drolet, BD Hodgson

Pediatr Dermatol. 2019 Jul; 36(4): 505–508

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6620126/

 

■ Posible síndrome de PHACES (S)

M I J Castillo, F J M Rodríguez, R M Masot

Rev Pediatr Aten Primaria 2017, vol 19 (73)

https://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1139-76322017000100007

 

■ PHACE syndrome: clinical manifestations, diagnostic criteria, and management

Anita Rotter, Luciana Paula Samorano, Maria Cecília Rivitti-Machado et at

An Bras Dermatol. 2018 May-Jun; 93(3): 405–411

 

■ Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome

Jack E. Steiner, Garrett N. McCoy, Christopher P. Hess et al

Am J Med Genet A. 2018 Jan; 176(1): 48–55

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5844264/

 

■ Prenatal risk factors for PHACE syndrome: a study using the PHACE syndrome international clinical registry and genetics repositor

Joy Wan, Jack Steiner, Eulalia Baselga et al

J Pediatr. 2017 Nov; 190: 275–27

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5690843/

 

■ PHACE syndrome: consensus-derived diagnosis and care recommendations

Maria C. Garzon, Leon G. Epstein, Geoffrey L. Heyer et al

J Pediatr. 2016 Nov; 178: 24–33.e2

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6599593/

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6001075/

 

■ Prevalence and clinical characteristics of headaches in PHACE syndrome

JiaDe Yu, Dawn H. Siegel, Beth A. Drolet,et al

J Child Neurol. 2016 Mar; 31(4): 468–473

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6457900/

 

■ PHACE syndrome misdiagnosed as a port-wine stain

Jason Thomson, Aina Greig, Claire Lloyd, Danny Morrison, Carsten Flohr

BMJ Case Rep. 2015; 2015: bcr2015209889

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC4513526/

 

■ Complex aortic coarctation and PHACE syndrome

F Prada, C Mortera, J Bartrons et al

Revista Española de Cardiologia 2010, vol 63 (11): 1367-1370

https://www.revespcardiol.org/es-complex-aortic-coarctation-and-phace-articulo-13187973

 

■ Dr Paulo Fernando Leite

Cardiologia/Prevenção Cardiovascular

Consultório: Rua Padre Rolim 815/sala 601 – Belo Horizonte/MG/Brasil

Tel: 33245518

CRMMG: 7026

Email: pfleite1873@gmail.com

Blog Internet Médica – www.internetmedica.com.br

Data: janeiro 2022