Atypical Presentation of PHACE Syndrome: Hidden Facial Hemangioma

Demartini, Zeferino; Gatto, Luana Antunes Maranha; Lages, Roberto Oliver; Francisco, Alexandre Novicki; Maeda, Adriano Keijiro; Koppe, Gelson Luis

doi:10.1159/000493491

Cited by 6 publications

(4 citation statements)

References 19 publications

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“…Spontaneous artery thrombosis in children with nephrotic syndrome (NS) who do not have antecedent trauma such as femoral vein puncture is extremely rare and often develops within months of NS diagnosis. 1,2 Here, we report a rare case of acute femoral artery thrombosis during i.v. methylprednisolone pulse (IVMP) treatment, 13 years after the diagnosis of NS.…”

Section: Shuichiro Fujinaga and Koji Sakuraya Division Of Nephrologymentioning

confidence: 96%

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PHACE syndrome with unnoticeable skin lesion and rare anomaly of coronary artery

Sekioka¹,

Fukumoto²,

Hirono³

et al. 2019

Pediatrics International

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Section: Shuichiro Fujinaga and Koji Sakuraya Division Of Nephrologymentioning

confidence: 96%

“…Finally, contrast‐enhanced CT and bronchoscopy under general anesthesia were necessary for diagnosis. PHACE syndrome without apparent skin hemangioma as an atypical feature has been reported previously, but the rate of occurrence of that presentation in PHACE syndrome remains unclear.…”

mentioning

confidence: 99%

PHACE syndrome with unnoticeable skin lesion and rare anomaly of coronary artery

Sekioka¹,

Fukumoto²,

Hirono³

et al. 2019

Pediatrics International

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“…The acronym PHACE stands for posterior fossa malformations, hemangiomas, arterial abnormalities, cardiac defects, and eye anomalies. When defects like sternal clefting or supraumbilical raphe are also present, the acronym PHACES is used instead 2 . The association of PHACE syndrome with brain abnormalities was first reported in 1978 by Pascual-Castroviejo.…”

Section: Introductionmentioning

confidence: 99%

PHACE syndrome: a case report and a comprehensive review

William,

Bhusal,

Umar

et al. 2024

Annals of Medicine &Amp; Surgery

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Introduction and Importance: PHACE syndrome is a rare neurocutaneous disorder characterized by large segmental hemangiomas on the face and is associated with multiple developmental defects. PHACE stands for Posterior fossa malformations, Hemangiomas, Arterial abnormalities, Cardiac defects, and Eye anomalies, with the most common manifestation being hemangioma in the cervico-facial region in early childhood. Case Presentation: We report a case of a 15-year-female with complaints of facial hemangioma which on multisystemic imaging showed features of CNS anomalies that led to the diagnosis of PHACE syndrome. The patient was started on Propanolol which decreased the size of hemangioma in follow-up visits. Clinical Discussion: The hemangioma in the frontotemporal and frontonasal area of the face are associated more with CNS and cardiovascular anomalies needing a detailed multisystem approach. CNS anomalies include posterior cerebral fossa enlargement, cystic dilation of the fourth ventricle, arachnoid cyst, and cerebellar hypoplasia which were present in our case. Propanolol is considered the first-line drug for facial hemangioma with reported evidence of remarkable improvement and good tolerance. However, regular follow-up of the patient is needed to rule out any recurrence. Conclusion: PHACE syndrome, though being a rare occurrence, must be kept as a differential diagnosis in infants and children with facial hemangioma. Imaging modalities like MRI/MRA must be used to rule out possible associations related to PHACE syndrome and focus on early treatment to prevent possible complications.

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“…The acronym PHACE stands for Posterior fossa malformations, Hemangiomas, Arterial abnormalities, Cardiac defects, and Eye anomalies. When developmental defects such as sternal clefting or supraumbilical raphe are also present, the acronym PHACES is used instead [1]. PHACE syndrome is a rare disease that has only been described about 300 times in medical literature.…”

Section: Introductionmentioning

confidence: 99%

PHACE syndrome with parotid hemangiomas: a unique case report

Mukhtar

Kanwal

Qamar

et al. 2021

Egypt J Radiol Nucl Med

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Background PHACE syndrome is a congenital disorder in infants characterized by the presence of large hemangiomas in the cervicofacial region along with congenital anomalies of the cardiovascular system, brain, and eyes. PHACE syndrome is an extremely rare condition, and PHACE syndrome with parotid hemangiomas has never been reported in the medical literature. Case presentation A 3-month-old female infant presented with cervicofacial plaques that later involved the left eyelids. The plaques blanched on application of pressure and were diagnosed to be hemangiomas. MRI and MRA studies of the brain showed extensive vascular malformations, agenesis of the left internal carotid artery, and hemangiomas in the parotid glands. A biopsy of the parotid glands confirmed the parotid hemangiomas. Bilateral cataracts and subclavian artery with an aberrant origin were also found. On the basis of the hemangiomas and the arterial, cardiovascular, and ocular abnormalities, PHACE syndrome was diagnosed. A multi-disciplinary treatment approach was begun, but the infant died 20 days after presentation to the hospital. Conclusions PHACE syndrome is an extremely rare condition that has only been described three hundred times in medical literature. It is usually associated with extensive structural, arterial, ocular, and cutaneous anomalies. However, PHACE syndrome with parotid hemangiomas has never been reported in the medical literature. Hemangiomas are the main diagnostic feature and the most common lesion of this disease. This strong association between PHACE syndrome and hemangiomas suggests the parotid hemangiomas seen in our case to be a new addition to the broad spectrum of anomalies associated with PHACE syndrome.

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Atypical Presentation of PHACE Syndrome: Hidden Facial Hemangioma

Cited by 6 publications

References 19 publications

PHACE syndrome with unnoticeable skin lesion and rare anomaly of coronary artery

PHACE syndrome with unnoticeable skin lesion and rare anomaly of coronary artery

PHACE syndrome: a case report and a comprehensive review

PHACE syndrome with parotid hemangiomas: a unique case report

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