J Pediatr Genet 2021; 10(04): 315-318
DOI: 10.1055/s-0040-1714066
Case Report

PHACE Syndrome in a Child with Structural Malformations of the Brain

1   Department of Pediatric Hematology and Oncology, Konya Training and Research Hospital, Konya, Turkey
,
Melih Timucin Dogan
2   Department of Pediatric Cardiology, Konya Training and Research Hospital, Konya, Turkey
,
Avni Merter Keceli
3   Department of Pediatric Radiology, Konya Training and Research Hospital, Konya, Turkey
› Author Affiliations
Funding None.

Abstract

PHACE syndrome is an acronym that describes a neurocutaneous condition, consisting of posterior fossa malformations that coexist with large facial hemangiomas, eye anomalies, and cardiac/aortic defects. The prognosis of the disease has not been clearly identified. There appears to be a risk of stroke in children with arterial anomalies. Radiological examinations play a considerable role in determining the degree of intracranial, cardiac involvement and the probable complications. In this article, we reported a 4-month-old boy with PHACE syndrome that has been diagnosed through a large segmental infantile hemangioma involving the eye and over the left half of the face in brain magnetic resonance imaging and magnetic resonance angiography findings. One month after starting propranolol therapy, there was a noticeable reduction in the size of the lesions. Almost complete resolution of the hemangioma was seen after a 6 months of propranolol therapy.

Authors’ Contributions

All authors were involved in patient management, literature review, and writing the manuscript.




Publication History

Received: 16 March 2020

Accepted: 27 May 2020

Article published online:
23 July 2020

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  • References

  • 1 Pascual-Castroviejo I. Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. Neuroradiology 1978; 16: 82-84
  • 2 Frieden IJ, Reese V, Cohen D. PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol 1996; 132 (03) 307-311
  • 3 Hartemink DA, Chiu YE, Drolet BA, Kerschner JE. PHACES syndrome: a review. Int J Pediatr Otorhinolaryngol 2009; 73 (02) 181-187
  • 4 Etchevers HC, Vincent C, Le Douarin NM, Couly GF. The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain. Development 2001; 128 (07) 1059-1068
  • 5 Rotter A, Samorano LP, Rivitti-Machado MC, Oliveira ZNP, Gontijo B. PHACE syndrome: clinical manifestations, diagnostic criteria, and management. An Bras Dermatol 2018; 93 (03) 405-411
  • 6 Metry D, Frieden IJ, Hess C. et al. Propranolol use in PHACE syndrome with cervical and intracranial arterial anomalies: collective experience in 32 infants. Pediatr Dermatol 2013; 30 (01) 71-89
  • 7 Kilcline C, Frieden IJ. Infantile hemangiomas: how common are they? A systematic review of the medical literature. Pediatr Dermatol 2008; 25 (02) 168-173
  • 8 Garzon MC, Epstein LG, Heyer GL. et al. PHACE syndrome: consensus-derived diagnosis and care recommendations. J Pediatr 2016; 178: 24-33.e2
  • 9 Haggstrom AN, Garzon MC, Baselga E. et al. Risk for PHACE syndrome in infants with large facial hemangiomas. Pediatrics 2010; 126 (02) e418-e426
  • 10 Lim TH, Yap E, Norhatizah BS. Facial segmental haemangioma with PHACE syndrome successfully treated with oral propranolol. Med J Malaysia 2019; 74 (05) 447-449
  • 11 Léauté-Labrèze C, Dumas de la Roque E, Hubiche T, Boralevi F, Thambo JB, Taïeb A. Propranolol for severe hemangiomas of infancy. N Engl J Med 2008; 358 (24) 2649-2651
  • 12 Léauté-Labrèze C, Voisard JJ, Moore N. Oral propranolol for infantile hemangioma. N Engl J Med 2015; 373 (03) 284-285
  • 13 Olsen GM, Hansen LM, Stefanko NS. et al. Evaluating the safety of oral propranolol therapy in patients with PHACE syndrome. JAMA Dermatol 2020; 156 (02) 186-190
  • 14 Drolet BA, Dohil M, Golomb MR. et al. Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE association. Pediatrics 2006; 117 (03) 959-964
  • 15 Siegel DH, Tefft KA, Kelly T. et al. Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature. Stroke 2012; 43 (06) 1672-1674