PHACES syndrome and multi-regional odontodysplasia: a case report

PHACES syndrome is an acronym for the syndromic presentation of Posterior fossa malformation, Hemangioma, Arterial anomalies, Coarctation of aorta/cardiac defects, Eye abnormalities and Sternal malformations. Infantile hemangiomas are the most common tumors of infancy. Regional odontodysplasia, commonly referred to as “ghost teeth”, is a rare localized developmental malformation of enamel and dentin with varying levels of severity that results in unusual clinical and radiographic appearances of affected teeth. This report describes a rare case of a two-year-old Caucasian male diagnosed with PHACES syndrome also presenting with multi-regional odontodysplasia. Ten of twenty teeth were dysplastic. The patient was treated under general anesthesia in a hospital setting. All affected primary teeth were extracted due to sensitivity, abscess and extremely poor long-term prognosis. Moving forward, a long-term interdisciplinary approach will be necessary to address this child’s dentition as it develops.

Odontodysplasia; PHACES syndrome; Dental anomaly

[1] Frieden IJ, Reese V, Cohen D. Frieden IJ. PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Archives of Dermatology. 1996; 132: 307–311.

[2] Metry DW, Dowd CF, Barkovich AJ, Frieden IJ. The many faces of PHACE syndrome. The Journal of Pediatrics. 2001; 139: 117–123.

[3] Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, et al. PHACE syndrome: consensus—derived diagnosis and care recommendations. The Journal of Pediatrics. 2016; 178: 24–33.e2.

[4] Rotter A, Samorano LP, Rivitti-Machado MC, Oliveira ZNP, Gontijo B. PHACE syndrome: clinical manifestations, diagnostic criteria, and management. Anais Brasileiros de Dermatologia. 2018; 93: 405–411.

[5] Stefanko NS, Cossio ML, Powell J, Blei F, Davies OMT, Frieden IJ, et al. Natural history of PHACE syndrome: a survey of adults with PHACE. Pediatric Dermatology. 2019; 36: 618–622.

[6] Chiu YE, Siegel DH, Drolet BA, Hodgson BD. Tooth enamel hypoplasia in PHACE syndrome. Pediatric Dermatology. 2014; 31: 455–458.

[7] Demartini Z Jr, Gatto LAM, Lages RO, Francisco AN, Maeda AK, Koppe GL. Atypical presentation of PHACE syndrome: hidden facial hemangioma. Pediatric Neurosurgery. 2018; 53: 421–426.

[8] Youssef MJ, Siegel DH, Chiu YE, Drolet BA, Hodgson BD. Dental root abnormalities in four children with PHACE syndrome. Pediatric Dermatology. 2019; 36: 505–508.

[9] Rodríguez Bandera AI, Sebaratnam DF, Wargon O, Wong LF. Infantile hemangioma. Part 1: epidemiology, pathogenesis, clinical presentation and assessment. Journal of the American Academy of Dermatology. 2021; 85: 1379–1392.

[10] Bruckner AL, Frieden IJ, Powell J. Infantile Haemangiomas. In Hoeger P, Kinsler V, Yan A, Harper J, Oranje A, Bodemer C, et al. (ed.) Harper’s Textbook of Pediatric Dermatology (pp. 1425–1439). 4th edn. Wiley: Hoboken, New Jersey. 2019.

[11] Hamdan MA, Sawair FA, Rajab LD, Hamdan AM, Al-Omari IK. Regional odontodysplasia: a review of the literature and report of a case. International Journal of Paediatric Dentistry. 2004; 14: 363–370.

[12] Gardner DG, Sapp JP. Regional odontodysplasia. Oral Surgery, Oral Medicine, Oral Pathology. 1973; 35: 351–365.

[13] Hess P, Lauridsen EF, Daugaard-Jensen J, Worsaae N, Kofod T, Hermann NV. Treatment strategies for patients with regional odontodysplasia: a presentation of seven new cases and a review of the literature. Oral Health and Preventive Dentistry. 2020; 18: 669–681.

[14] Alotaibi O, Alotaibi G, Alfawaz N. Regional odontodysplasia: an analysis of 161 cases from 1953 to 2017. The Saudi Dental Journal. 2019; 31: 306–310.

[15] Volpoto L, Botelho G, Casela L, Borges A, Silva K. Regional odontodysplasia: report of a case in the mandible crossing the midline. The Journal of Contemporary Dental Practice. 2008; 9: 142–148.

[16] Chaturvedi TP, Pandey RK, Upadhyay V, Chaurasia A, Singh P. Regional odontodysplasia crossing midline: a rare case report. International Journal of Clinical Pediatric Dentistry. 2011; 4: 159–161.

[17] Siddharth P, Susmita S, Vivek A. Regional odontodysplasia: a unique dental anomaly with an insight into its possible etiologic factors. Annals and Essences of Dentistry. 2011; 3: 47–51.

[18] Chiu YE, Siegel DH, Drolet BA, Hodgson BD. Tooth enamel hypoplasia in PHACE syndrome. Pediatric Dermatology. 2014; 31: 455–458.

[19] Youssef MJ, Siegel DH, Chiu YE, Drolet BA, Hodgson BD. Dental root abnormalities in four children with PHACE syndrome. Pediatric Dermatology. 2019; 36: 505–508.

[20] Steiman HR, Cullen CL, Geist JR. Bilateral mandibular regional odontodysplasia with vascular nevus. Pediatric Dentistry Journal. 1991; 13: 303–306.

[21] Cahuana A, González Y, Palma C. Clinical management of regional odontodysplasia. Pediatric Dentistry Journal. 2005; 27: 34–39.

[22] Bennadi D, Reddy CVK. Oral health related quality of life. Journal of International Society of Preventive and Community Dentistry. 2013; 3: 1–6.