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LETTER TO EDITOR
Year : 2021  |  Volume : 22  |  Issue : 2  |  Page : 183-185

PHACE syndrome: An uncommon case


1 Department of Dermatology, KPC Medical College and Hospital, Kolkata, West Bengal, India
2 Department of Dermatology, Calcutta National Medical College and Hospital, Kolkata, West Bengal, India

Date of Submission14-Apr-2020
Date of Decision07-May-2020
Date of Acceptance22-May-2020
Date of Web Publication31-Mar-2021

Correspondence Address:
Anupam Das
Building “Prerana” 19 Phoolbagan, Kolkata - 700 086, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_60_20

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How to cite this article:
Das A, De A, Halder D, Das S. PHACE syndrome: An uncommon case. Indian J Paediatr Dermatol 2021;22:183-5

How to cite this URL:
Das A, De A, Halder D, Das S. PHACE syndrome: An uncommon case. Indian J Paediatr Dermatol [serial online] 2021 [cited 2021 Apr 18];22:183-5. Available from: https://www.ijpd.in/text.asp?2021/22/2/183/312813



Sir,

PHACE syndrome is the conglomeration of a large hemangioma, located on the face or neck, along with posterior fossa brain malformations, hemangioma, arterial lesions, cardiac abnormalities/aortic coarctation, and eye abnormalities. Hereby, we report a case of a 2-month-old girl who presented with a segmental hemangioma on the face, and was later diagnosed with PHACE syndrome.[1]

A 2-month-old female child was brought to the dermatology outpatient department, by her anxious parents. She was the second child born to a multigravida mother, by vaginal route. The mother's antenatal history was uneventful. Cutaneous examination revealed a large hemangioma (largest dimension being 6.5 cm) on the left side of the baby's face, involving the cheeks and extending toward the ipsilateral upper and lower eyelids and ears [Figure 1]. There was no history of crusting, ulceration, discharge, or bleeding from the lesions. Oropharyngeal examination did not reveal any similar lesions. Hearing was normal. Head circumference and shape was normal for her age. There were no similar lesions elsewhere in the body. Magnetic resonance imaging (MRI) of the brain was performed, and features were suggestive of left cerebellar hemisphere hypoplasia with hypoplastic inferior cerebellar vermis and Dandy–Walker variant [Figure 2] and [Figure 3]. Besides, a lobulated lesion was also noted in the left parotid region. There was no hydrocephalus, midline anomalies, or neuronal migration disorder. There was no evidence of suprasternal clefting and supraumbilical raphe. A differential diagnosis of Wyburn–Mason syndrome and Sturge– Weber syndrome More Details was considered, but they were ruled out on the basis of history and clinical examination. A diagnosis of PHACE syndrome was kept in mind and evaluation was done. Thyroid screening, echocardiography, and ocular investigations were within normal limits. The child is under periodic follow-up, and the parents have been counseled regarding the benign nature of the cutaneous lesion and its tendency to regress with age. We have prescribed topical timolol 0.5% eye drops, 3 drops applied twice daily. They have been advised to follow-up regularly at the neurology outpatient department. We have planned to start oral propranolol in case if there is any complication (enlargement in size or ulceration).
Figure 1: Segmental hemangioma on the left side of the face, extending to the eyelids and ear

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Figure 2: Magnetic resonance imaging brain plates showing left cerebellar hemisphere hypoplasia with hypoplastic inferior cerebellar vermis and Dandy–Walker variant

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Figure 3: Magnetic resonance imaging brain plates showing left cerebellar hemisphere hypoplasia with hypoplastic inferior cerebellar vermis and Dandy–Walker variant

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PHACE/S is a syndromic type of infantile segmental hemangioma, first described by Frieden et al. in 1996.[2] The diagnostic criteria were described by Metry et al. in 2009. The criteria were graded into two categories, namely PHACE syndrome and possible PHACE syndrome. PHACE syndrome requires the presence of a segmental hemangioma or hemangioma >5 cm on the face or scalp plus one major criterion or two minor criteria. Possible PHACE requires the presence of a hemangioma >5 cm on the face or scalp plus one minor criterion [Figure 4].[1]
Figure 4: Diagnostic criteria of PHACE syndrome[1]

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Our case had facial segmental hemangioma >5 cm and MRI findings characteristic of PHACE syndrome. Wyburn–Mason syndrome and Sturge–Weber syndrome are the close differentials; the former is characterized by cutaneous findings mimicking a hemangioma, but intracranial and retinal arteriovenous malformation would be typically absent, whereas the latter would have port wine stain, glaucoma, and pial angiomas.[3]

Structural brain abnormalities are the most common extracutaneous manifestations of PHACE syndrome. Dandy–Walker malformation with or without cerebellar hypoplasia is the most common posterior fossa abnormality. Supratentorial lesions are found in 30% of patients. Clinically, the patients may present with macrocephaly, enlarging head circumference, hemiparesis, and developmental delay.[4] For this reason, the parents of the girl were asked to be under periodic follow-up at the neurology department.

Presence of airway hemangioma is seen in more than 50% of cases, and this is an emergency because of the propensity to present with stridor. Such cases necessitate the administration of systemic steroids. Cerebrovascular and cardiovascular lesions are known to precipitate strokes, and for this reason, MRI imaging and echocardiography should be performed in babies presenting with large hemangiomas on the head and neck.[5],[6]

To conclude, PHACE syndrome is a diagnosis that should be kept in mind, while investigating a child with hemangiomas on the head, face, and neck; appropriate investigations must be performed to rule out the presence of underlying abnormalities. A high index of suspicion obviates the precipitation of emergency in future.

Declaration of patient consent

The authors certify that they have obtained all appropriate consent from the parents of the patient. In the form, the parents have given their consent for their child's images and other clinical information to be reported in the journal. The parents understand that their child's names and initial will not be published, and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Consent

The parents have provided written informed consent for using the photographs for academic purpose.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
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. 1
    
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;132:307-11.  Back to cited text no. 2
    
3.
Rotter A, Samorano LP, Rivitti-Machado MC, Oliveira ZN, Gontijo B. PHACE syndrome: Clinical manifestations, diagnostic criteria, and management. An Bras Dermatol 2018;93:405-11.  Back to cited text no. 3
    
4.
Sindgikar SP, Raghuraj U, Alva K, Maveli TM. PHACE syndrome in antenatally diagnosed posterior fossa anomaly. Indian Dermatol Online J 2014;5:312-3.  Back to cited text no. 4
[PUBMED]  [Full text]  
5.
Haggstrom AN, Garzon MC, Baselga E, Chamlin SL, Frieden IJ, Holland K, et al. Risk for PHACE syndrome in infants with large facial hemangiomas. Pediatrics 2010;126:e418-26.  Back to cited text no. 5
    
6.
Lin MC, Chen CH, Chi CS. PHACE syndrome: Report of one case. Acta Paediatr Taiwan 2003;44:379-82.  Back to cited text no. 6
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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