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01-12-2007 | Short Report

PHACES syndrome with small, late-onset hemangiomas

Authors: Bırgın Torer, Hande Gulcan, Hasan Kilicdag, Murat Derbent

Published in: European Journal of Pediatrics | Issue 12/2007

Abstract

Although hemangiomas are the hallmark of the PHACES syndrome, they may be nonexistent at birth and may not develop until later in early infancy. We report an infant who presented initially with cardiac defect, sternal nonunion, supraumbilical raphé, and congenital hypothyroidism without any hemangioma, and who subsequently developed facial hemangiomas at 2 months of age. We noted that there is a possibility that hemangiomas may subsequently develop later in early infancy and congenital hypothyroidism may be associated with the PHACES syndrome.

Bronzetti G, Giardini A, Patrizi A, Prandstraller D, Donti A, Formigari R, Bonvicini M, Picchio FM (2004) Ipsilateral hemangioma and aortic arch anomalies in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, and cardiac defects and eye abnormalities (PHACE) anomaly: report and review. Pediatrics 113(2):412–415PubMedCrossRef

Chan YC, Eichenfield LF, Malchiodi J, Friedlander SF (2005) Small facial haemangioma and supraumbilical raphe—a forme fruste of PHACES syndrome? Br J Dermatol 153(5):1053–1057PubMedCrossRef

Frieden IJ, Reese V, Cohen D (1996) PHACE syndrome: the association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol 132(3):307–311PubMedCrossRef

Kronenberg A, Blei F, Ceisler E, Steele M, Furlan L, Kodsi S (2005) Ocular and systemic manifestations of PHACES (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects and coarctation of the aorta, eye abnormalities, and sternal abnormalities or ventral developmental defects) syndrome. J AAPOS 9(2):169–173PubMedCrossRef

Metry DW, Dowd CF, Barkovich AJ, Frieden IJ (2001) The many faces of PHACE syndrome. J Pediatr 139(1):117–123PubMedCrossRef

Metry DW, Haggstrom AN, Drolet BA, Baselga E, Chamlin S, Garzon M, Horii K, Lucky A, Mancini AJ, Newell B, Nopper A, Heyer G, Frieden IJ (2006) A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet A 140(9):975–986PubMed

Moore KL, Persaud TVN (1998) The pharyngeal (branchial) apparatus. In: The developing human: clinically oriented embryology, 6th edn. WB Saunders, Philadelphia, Pennsylvania, pp 230–231

Title: PHACES syndrome with small, late-onset hemangiomas
Authors: Bırgın Torer
Hande Gulcan
Hasan Kilicdag
Murat Derbent
Publication date: 01-12-2007
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 12/2007
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-006-0391-x

At a glance: The STEP trials

Springer Medicine

PHACES syndrome with small, late-onset hemangiomas

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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