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Year : 2017  |  Volume : 18  |  Issue : 3  |  Page : 223-226

A rare face of “PHACE” syndrome with Dandy-Walker malformation, microphthalmia with leukocoria, hearing loss and involuting segmental facial hemangioma

1 Department of Dermatology, Venereology and Leprosy, Rohilkhand Medical College and Hospital, Bareilly, Uttar Pradesh, India
2 Department of Dermatology, Venereology and Leprosy, RIMS, Ranchi, Jharkhand, India
3 Department of Paediatrics, M.G.M. Medical College and Hospital, Jamshedpur, Jharkhand, India

Date of Web Publication7-Jun-2017

Correspondence Address:
Anup Kumar Tiwary
Panchwati Nagar, Near I.T.I. Itki Road, Ranchi, Jharkhand
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.206056

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The acronym “PHACE” refers to the syndromic association of posterior fossa anomalies, hemangioma, arterial lesions, cardiac abnormalities/coarctation of the aorta, and eye anomalies. Till now, less than 400 cases of PHACE syndrome have been reported in the medical literature. Its etiopathogenesis is still unknown, and a great deal of genetic and molecular research is required. Moreover, there is always a high probability of misdiagnosis due to the certain factors such as mildly symptomatic patients, hasty diagnosis of relatively common simulating syndromic entities, and low awareness among medical fraternity about the standard diagnostic criteria for PHACE syndrome. Therefore, we report here a case of PHACE syndrome in a 2-year-old female child presenting with Dandy-Walker malformation, microphthalmia, leukocoria, hearing loss, and regressing lesions of large facial infantile hemangioma.

Keywords: Dandy-Walker, infantile hemangioma, microphthalmia, PHACE

How to cite this article:
Tiwary AK, Mishra DK, Jha G. A rare face of “PHACE” syndrome with Dandy-Walker malformation, microphthalmia with leukocoria, hearing loss and involuting segmental facial hemangioma. Indian J Paediatr Dermatol 2017;18:223-6

How to cite this URL:
Tiwary AK, Mishra DK, Jha G. A rare face of “PHACE” syndrome with Dandy-Walker malformation, microphthalmia with leukocoria, hearing loss and involuting segmental facial hemangioma. Indian J Paediatr Dermatol [serial online] 2017 [cited 2021 Oct 16];18:223-6. Available from: https://www.ijpd.in/text.asp?2017/18/3/223/206056

  Introduction Top

The acronym “PHACE” was first used by Ilona Frieden in 1996, to denote a recognizable pattern of association of various medical conditions occurring together in babies. It refers to posterior fossa anomalies, hemangioma, arterial lesions, cardiac abnormalities, and eye anomalies.[1] Till now, less than 400 cases of PHACE syndrome have been reported worldwide. Owing to its rarity, high chances of misdiagnosis due to other closely mimicking syndromes, and to increase the awareness about these syndromic associations in order to make the proper diagnosis and care of the patient, reporting of such cases is warranted.

  Case Report Top

A 29-year-old mother came to our outpatient department with her 2-year-old female child presenting with regressing vascular lesions with scarring on her right side of the face and microphthalmia since birth. On probing into detailed history, we came to know that the baby was born out of uneventful vaginal delivery at full term. The baby had soft, fluctuant, nontender, pinkish, unilateral hemangioma on the right side involving cheek and periorbital region which rapidly increased in size up to the age of 13 months involving ear, forehead, upper lip, and ala of the nose on right side and encroached right eye also obstructing the vision. After that, growth of the lesion ceased with scarring and contracture.

On local physical examination, vascular lesion was found to be healing with scar and contractures [Figure 1]. It was asymptomatic. On ocular examination, microphthalmia of the right eye and white reflex (leukocoria) were noted [Figure 2]. On routine laboratory investigations including hemogram, blood sugar levels, urine microscopy, and liver and kidney function tests were within normal limits.
Figure 1: Regressing hemangiomatous lesion involving whole right side of face

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Figure 2: Microphthalmia with white reflex of right eye

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Objectively, fundoscopy further revealed tessellated fundus suggesting retinal vascular anomalies and degeneration. Echocardiogram was normal, but computed tomography (CT) of the brain revealed well-established Dandy-Walker malformation with dilated cistern magna and hypoplasia of cerebellum and vermis [Figure 3]. CT angiography and magnetic resonance imaging (MRI) of the brain could not be performed due to financial constraints of the parents.
Figure 3: Computed tomography brain showing giant cisterna magna (white arrow) with hypoplastic cerebellum and vermis (black arrow) – Dandy-Walker malformation

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  Discussion Top

On very rare occasion, facial hemangiomas can be associated with some other defects which are acronymized as “PHACE syndrome” referring to the variable associations of posterior fossa defects, hemangiomas, arterial anomalies, cardiac defects (of which coarctation of the aorta is the commonest), and eye abnormalities.[1] Further, “S” was added to this acronym standing for “sternal cleft or supraumbilical raphe, “ and it became “PHACES” syndrome. Historically, the similar constellation of findings was reported in Spain and was called synonymously as “Pascual-Castroviejo type II syndrome.”[2]

Being known only for the last 20 years, very few information is available about this association. The abnormalities associated with this syndrome are thought to be due to embryonic developmental errors. Unfortunately, etiopathologically, it is still an enigma but there may be a genetic component involved.[3]

Characteristically, it has a striking female preponderance with M/F ratio as 1:9.[1],[2] No familial cases have been identified till date. To diagnose this syndrome, a diagnostic criterion has been proposed. Moreover, each case of PHACE syndrome present with a different combination of abnormalities and their severities also varies in a great way. Before going for a detailed description of its major and minor diagnostic criteria, it has to be mentioned that only one major criterion has to be fulfilled along with large facial hemangioma (>5 cm) to entitle it as PHACE syndrome. Hemangioma is the chief feature which is actually “infantile hemangioma” exhibiting a characteristic clinical course of early rapid growth followed by spontaneous slow involution by the end of 1st year of life. In this course, many complications may arise due to the large size or inexorable growth at vital locations causing obstruction in breathing, vision, eating, or hearing. Pain, bleeding, ulceration, and serious cosmetic disfigurement may also ensue requiring urgent medical intervention.[3] Other complications will depend on what other structures are involved. These include cardiac problems, developmental delay, seizures, headaches, and abnormal muscle tone.

According to earlier reported cases, only one extracutaneous feature as major criteria has been found in 20% of infants along with large facial hemangiomas, as in our case.[3] The most common brain abnormality is Dandy-Walker malformation, seen in 48% of cases.[2] Other systemic associations are less common, and microphthalmia and sensorineural hearing loss are much rarer findings in this syndrome which were present in our patient.[1],[2]

Any infant presenting with large facial hemangioma should always be carefully examined by specialists of multiple disciplines, and a set of tests such as CT scan, MRI, magnetic resonance angiography, audiometry, brainstem evoked response audiometry, and fundoscopy need to be performed to detect other associated abnormalities of brain, neck, chest, heart, eyes, and ears. There are a set of major and minor diagnostic criteria which categorized this syndrome into two types: Definite PHACE syndrome and possible PHACE syndrome [Table 1] and [Table 2].[4]
Table 1: Categories of PHACE syndrome

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Table 2: Major and minor criteria

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Management of each case of PHACE syndrome depends on the spectrum and severity of involvement of the organs necessitating the need of multidisciplinary approach. Steroids (oral, intralesional, and topical), surgical excision, pulsed dye laser, potassium titanyl phosphate and Nd:YAG lasers, vincristine, beta-blockers (oral and topical), interferon alpha, and becaplermin gel are the commonly used modalities.[5],[6]

Declaration of Patient Consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of Interest

There are no conflicts of interest.

  References Top

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;132:307-11.  Back to cited text no. 1
Metry DW, Dowd CF, Barkovich AJ, Frieden IJ. The many faces of PHACE syndrome. J Pediatr 2001;139:117-23.  Back to cited text no. 2
Metry DW, Haggstrom AN, Drolet BA. A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings and complications. Am J Med Genet Part A 2006;140A: 975-86.  Back to cited text no. 3
Metry D, Heyer G, Hess C, Garzon M, Haggstrom A, Frommelt P, et al. Consensus statement on diagnostic criteria for PHACE syndrome. Pediatrics 2009;124:1447-56.  Back to cited text no. 4
Singh BA, Harsha YS, Nagi Reddy BS. Infantile hemangioma associated with PHACES syndrome showing a dramatic response to oral propranolol. Indian J Dermatol Venereol Leprol 2015;81:549.  Back to cited text no. 5
[PUBMED]  [Full text]  
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;146:1391-6.  Back to cited text no. 6


  [Figure 1], [Figure 2], [Figure 3]

  [Table 1], [Table 2]


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