DOI: http://dx.doi.org/10.18203/issn.2454-5929.ijohns20220814

PHACE syndrome: a frequently overlooked entity

Arunabha Chakravarti, Deeksha Sharma

Abstract


Infantile hemangiomas are the commonest vascular tumors of infancy. About 10% are associated with PHACE syndrome, a rare condition presenting with multiple systemic anomalies along with large cervicofacial hemangiomas. We present two case reports of this rare entity. First, a six year old female, with cutaneous hemangiomas involving the face and oral cavity, and extracutaneous hemangiomas involving the parotid glands, choroid and peripapillary region of the eye. MRI brain revealed presence of vascular malformations in the circle of Willis along with impingement of optic nerve. MRI head and neck region confirmed the presence of hemangiomas in bilateral parotid gland, right upper eyelid near medial canthus and in the suprasternal region. Second, a three-month-old female presenting with stridor along with hemangiomas involving segment 3 of face, oral cavity and parotid glands. CECT neck and Chest showed hemangiomas involving bilateral parotid and submandibular glands. Mediastinal involvement with extraluminal compression of airway was noted. Microlaryngobronchoscopy did not reveal presence of any airway hemangiomas. Ophthalmological examination showed signs of optic nerve hypoplasia. In both the cases, all the clinico-radiological findings were put together to establish the diagnosis. Both of them also showed significant response to the oral propranolol therapy. Due to the rarity and overlapping features of this syndrome, there is a high chance to overlook this diagnosis. A high index of suspicion and awareness about the features is needed to identify this condition and provide specific treatment.


Keywords


Infantile hemangiomas, Mutltisystemic involvement, Neurocutaneous syndrome

Full Text:

PDF

References


Metry DW, Dowd CF, Barkovich AJ, Frieden IJ. The many faces of PHACE syndrome. J Pediatr. 2001; 139(1):117-23.

Rotter A, Samorano LP, Rivitti-Machado MC, Oliveira ZNP, Gontijo B. PHACE syndrome: clinical manifestations, diagnostic criteria, and management. An Bras Dermatol. 2018;93(3):405-11.

Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, et al. PHACE syndrome: consensus-derived diagnosis and care recommendations. J Pediatr. 2016;178:24-33.

Metry DW, Haggstrom AN, Drolet BA, Baselga E, Chamlin S, Garzon M, et al. A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet A. 2006;140(9):975-86.

Smitha DS, Leeb KK, Milczuka HA. Otolaryngologic manifestations of PHACE syndrome. Int J Pediatr Otorhinolaryngol. 2004;68(11):1445-50.

Durr ML, Meyer AK, Huoh KC, Frieden IJ, Rosbe KW. Airway hemangiomas in PHACE syndrome. Laryngoscope. 2012;122(10):2323-9.

Heyer GL. PHACE(S) syndrome. Handb Clin Neurol. 2015;132:169-83.

Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, et al. PHACE syndrome: consensus-derived diagnosis and care recommendations. J Pediatr. 2016;178:24-33.

Duffy KJ, Runge-Samuelson C, Bayer ML, Friedland D, Sulman C, Chun R et al.Association of hearing loss with PHACE syndrome. Arch Dermatol. 2010;146(12): 1391-6.

Polanski JF, Veras RO, Lucinda LR, Santos VM. PHACE syndrome and hearing loss. An Bras Dermatol. 2019;94(4):489-90.

Mukhtar MU, Kanwal M, Qamar A, Arooj S, Qamar S. PHACE syndrome with parotid hemangiomas: a unique case report. Egyptian Journal of Radiology and Nuclear Medicine. 2021;52(1):1-4.