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Multiple facets of PHACE(S)
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  1. Geetha Anand1,
  2. Kilian Keaney2,
  3. Michael Anthony3,
  4. Gerardine Quaghebeur4
  1. 1Oxford Radcliffe NHS Trust, Paediatrics, 23, Nether Durford Close, Oxford OX 7FE, UK
  2. 2John Radcliffe Hospital, Paediatrics, Headington, Oxford OX3 7FE, UK
  3. 3John Radcliffe Hospitals, Paediatric Neurology, Oxford OX36AP, UK
  4. 4John Radcliffe Hospital, Radiology, Oxford OX36AP, UK
  1. Correspondence to Geetha Anand, anandgeetha97{at}hotmail.com

https://doi.org/10.1136/bcr.12.2009.2522

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    Description

    A 5-month-old female infant with a facial haemangioma (fig 1) presented with left focal seizures. Magnetic resonance (MR) imaging of the brain revealed ischaemic changes to both anterior and posterior territory circulations of the right hemisphere (fig 2). MR angiography showed gross abnormality of the cerebral vasculature, characterised by large vessel stenosis on the right with associated prominent perforators and also a congenital abnormal left carotid system (fig 3). These radiological features, in combination with the cutaneous lesion, was suggestive of PHACE syndrome.1,4

    Figure 1
    Figure 1

    Right facial large segmental haemangioma.

    Figure 2
    Figure 2

    Right anterior and posterior circulation infarcts.

    Figure 3
    Figure 3

    Very thin right middle cerebral artery (MCA) and internal carotid artery (ICA) abnormally arising directly from aortic arch.

    This infant had initially presented at 1 month of age with an enlarging right segmental facial haemangioma which was managed with oral prednisolone and surveillance by secondary care providers.

    At the 6 week baby check the general practitioner had commented on a circumscribed skin lesion on the sternum (fig 4) which in itself had not prompted further investigation.

    In 1996 Frieden first described PHACE syndrome—a heterogeneous neurocutaneous disorder that includes posterior fossa malformations (P), facial haemangiomas (H), arterial anomalies (A), cardiac anomalies (C), and eye abnormalities (E).1 Recent authors include sternal defects and refer to the syndrome as PHACE(S).3 Our infant was found to have the facial haemangioma (H), (cerebral) arterial anomalies (A), and sternal defect (S).

    This presentation is consistent with the observation that few infants manifest with the entire constellation of anomalies. The cerebrovascular anomalies are of concern because of the risk of early infantile stroke. This case reiterates assertions made by other authors that the presence of a characteristic segmental facial haemangioma necessitates evaluation for the extracutaneous features of PHACE(S) syndrome.2

    REFERENCES

    1. ↵
      1. Frieden IJ,
      2. Reese V,
      3. 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 Dermatology 1996; 132: 307–11.
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    2. ↵
      1. Metry DW,
      2. Dowd CF,
      3. Barkovich AJ,
      4. et al
      . The many faces of PHACE syndrome. J Pediatr 2001; 139: 117–23.
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    3. ↵
      1. Durusoy C,
      2. Mihci E,
      3. Tacoy S,
      4. et al
      . PHACES syndrome presenting as hemangiomas, sternal clefting and congenital ulcerations on the helices. J Dermatology 2006; 33: 219–22.
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    4. ↵
      1. Heyer GL,
      2. Dowling MM,
      3. Licht DJ,
      4. et al
      . The cerebral vasculopathy of PHACES syndrome. Stroke 2008; 39: 308–16.
      OpenUrlAbstract/FREE Full Text

    Footnotes

    • Competing interests: None.

    • Patient consent: Patient/guardian consent was obtained for publication.