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[Research progresses in the pathogenesis, diagnosis and treatment of infantile hemangioma with PHACE syndrome]
Su-Hua Peng1, Kai-Ying Yang, Si-Yuan Chen
1Department of Pediatric Surgery, West China Hospital of Sichuan University, Chengdu 610041, China. jijiyuanyuan@163.com.
Insights
Infant hemangioma can be linked to PHACE syndrome, a condition affecting multiple systems. This review details PHACE syndrome
Area of Science:
- Pediatric Oncology
- Vascular Malformations
- Genetics
Background:
- Infant hemangioma is the most common pediatric tumor, with some facial cases linked to PHACE syndrome.
- PHACE syndrome involves vascular and nerve lesions across multiple systems, potentially causing impairments.
- Potential pathogeneses include hypoxia, endothelial cell and stem cell abnormalities, and genetic factors.
Purpose of the Study:
- To review the pathogenesis, diagnosis, and treatment of PHACE syndrome.
- To provide guidance for the clinical management of infants with hemangioma and PHACE syndrome.
Main Methods:
- Literature review of studies on PHACE syndrome pathogenesis, diagnosis, and treatment.
- Synthesis of current understanding regarding the underlying mechanisms and clinical approaches.
Main Results:
- PHACE syndrome pathogenesis involves complex interactions including hypoxia and cellular abnormalities.
- Current treatments include beta blockers, glucocorticoids, and mTOR inhibitors.
- Diagnosis relies on recognizing characteristic clinical features and associated malformations.
Conclusions:
- Understanding PHACE syndrome pathogenesis is crucial for effective management.
- Multidisciplinary approaches are essential for diagnosing and treating patients with PHACE syndrome.
- Further research is needed to optimize treatment strategies for this complex disorder.
Abstract:
Infant hemangioma, the most common benign tumor in children, is characterized by rapid proliferation, followed by slower spontaneous involution. However, some patients with facial segmental hemangioma are associated with PHACE syndrome. PHACE syndrome is characterized by vascular nerve and vascular cutaneous lesions of multiple systemic systems, often resulting in structural and functional impairments. Recent studies have demonstrated that the possible pathogeneses of PHACE syndrome mainly include hypoxia, abnormality of mesodermal vascular endothelial cells, genetic abnormality, and abnormality of interstitial mesenchymal stem cells. The current medications for hemangioma with PHACE syndrome include beta blockers, glucocorticoids, and mTOR inhibitors. This review article mainly describes the pathogenesis, diagnoses and treatments of PHACE syndrome, in order to provide directions for diagnosis and treatment of this disorder.
