Extensive Facial Hemangioma with Dandy-Walker Malformation in an Infant: A Rare Case Report of PHACE Syndrome
Background: The acronym PHACE has been used for a rare neurocutaneous syndrome encompassing congenital malformations such as posterior fossa defect (P), infantile hemangioma (H), arterial abnormality (A), cardiac defect (C), and eye (E) abnormality. Although hemangiomas are common, the risk of havin...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Indian Pediatrics Case Reports |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ipcares.ipcares_224_24 |
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| Summary: | Background:
The acronym PHACE has been used for a rare neurocutaneous syndrome encompassing congenital malformations such as posterior fossa defect (P), infantile hemangioma (H), arterial abnormality (A), cardiac defect (C), and eye (E) abnormality. Although hemangiomas are common, the risk of having PHACE increases with size of hemangioma.
Clinical Description:
A 7-month-old female baby presented with multiple large hemangiomas over the face, scalp, extending inside oral cavity, neck, and upper chest which were increasing in size gradually, with ulcerations. Birth and development were unremarkable. She had macrocephaly and respiratory distress with a pansystolic murmur.
Management and Outcome:
Echocardiography revealed ventricular septal defect and brain imaging showed communicating hydrocephalus with empty posterior fossa, suggestive of Dandy–Walker Malformation. These findings along with large facial hemangioma are consistent with PHACE syndrome.
Conclusion:
The case highlights the importance of having a knowledge regarding such an important but rare condition of PHACE syndrome, which may be missed if not evaluated for, in an infant with hemangioma. |
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| ISSN: | 2772-5170 2772-5189 |