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'PHACE' on the 'face'.
BMJ Case Rep
January 2025
Paediatric Department, SJOG Midland Public Hospital, Midland, Western Australia, Australia.
Infantile haemangiomas are a common presentation in infants within the first few months of life. The majority of haemangiomas are benign; however, large haemangiomas (≥5 cm), especially those involving the face, may indicate a more serious underlying neurocutaneous disorder known as PHACE (Posterior fossa malformations, Haemangioma, Arterial anomalies, Coarctation of the aorta/Cardiac defects and Eye abnormalities) syndrome. The authors report an unusual case of possible PHACE syndrome in a young male toddler with a large facial haemangioma.
View Article and Find Full Text PDFPHACEing a challenging diagnosis: Should we expand the phenotype?
J Med Imaging Radiat Oncol
October 2024
Paediatric Neurology/Neurogenetics Units, Monash Health, Melbourne, Victoria, Australia.
Article Synopsis
- PHACE syndrome is a complex prenatal condition that can have significant health implications, often identified through specific signs observed in prenatal imaging.
- The 'tilted telephone receiver' sign suggests a strong link to PHACE, but recent cases show it can also appear in less severe forms, prompting discussions about expanding how we recognize this syndrome.
- A particular case with mild symptoms resembling PHACE did not actually result in the condition after birth, indicating that expanded criteria for diagnosis could lead to incorrect negative predictions for affected pregnancies.
PHACE syndrome: A review.
Semin Pediatr Neurol
October 2024
Department of Neurology, Dell Medical School, The University of Texas at Austin, 1601 Trinity St., Bldg. B, Stop Z0700, Austin, TX 78712, United States. Electronic address:
Article Synopsis
- PHACE syndrome is a neurocutaneous disorder characterized by brain abnormalities, facial hemangiomas, and various arterial and cardiac issues.
- While visible hemangiomas are the most prominent symptom, serious complications like aortic anomalies and strokes can arise, making early identification crucial.
- The article reviews important clinical features, diagnostic approaches, and management strategies, highlighting the significance of this condition for pediatric neurologists.
Infantile hemangioma precursor lesions on day of life 1: A Mayo Clinic retrospective case series.
Pediatr Dermatol
November 2024
Department of Dermatology, Mayo Clinic, Rochester, Minnesota, USA.
Article Synopsis
- Infantile hemangiomas (IHs) are common vascular tumors that typically develop during the first few weeks of an infant's life, but the precursor lesions can be mistaken for other conditions.
- A study reviewed nine cases of neonates with initial lesions observed on their first day, comparing these early signs with classic IHs and documenting treatment details.
- Better identifying precursor lesions can enhance diagnosis, minimize unnecessary procedures, and lead to quicker evaluations for related syndromes in more severe cases.
In vivo angle dysgenesis in PHACE syndrome with developmental glaucoma.
BMJ Case Rep
August 2024
Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Delhi, Delhi, India
Article Synopsis
- - A girl with glaucoma in her right eye also had facial and neck hemangiomas, raising concerns for a complex condition called PHACE syndrome, which includes various anomalies.
- - MRI revealed underdevelopment of the right internal carotid artery, linking her symptoms to brain and vascular issues associated with PHACE syndrome.
- - Advanced eye imaging (AS-OCT) revealed issues with eye structure that contributed to elevated pressure in her right eye, suggesting that understanding these developmental problems could provide insights into PHACE syndrome's origins.
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