PHACE Syndrome with Large Facial Segmental Hemangioma and Cerebellar Hypoplasia / 임상소아혈액종양

Infantile hemangiomas are the most common benign tumors in infants. Facial segmental hemangiomas are often accompanied by other anomalies, and pre-treatment evaluation is needed. PHACE syndrome is associated with Posterior fossa anomalies, Hemangiomas, Arterial anomalies, Cardiac anomalies, and Eye anomalies (PHACE). PHACE syndrome is diagnosed in about 30% of patients with facial segmental hemangiomas. In PHACE syndrome, facial hemangioma usually requires initial treatment; propranolol use is increasing as a first-line treatment despite the risk of stroke. We report a case of PHACE syndrome in a patient with large facial hemangiomas, left cerebellar hypoplasia, and an absent A1 segment of the anterior cerebral artery. After 1 year of treatment with oral propranolol, facial hemangiomas improved and normal development was observed until 24 months of age. Evaluation of PHACE syndrome is important in patients with large facial segmental hemangiomas, and propranolol can be considered a first-line therapy for hemangioma.

PHACE Syndrome with Large Facial Segmental Hemangioma and Cerebellar Hypoplasia / 임상소아혈액종양

Infantile hemangiomas are the most common benign tumors in infants. Facial segmental hemangiomas are often accompanied by other anomalies, and pre-treatment evaluation is needed. PHACE syndrome is associated with Posterior fossa anomalies, Hemangiomas, Arterial anomalies, Cardiac anomalies, and Eye anomalies (PHACE). PHACE syndrome is diagnosed in about 30% of patients with facial segmental hemangiomas. In PHACE syndrome, facial hemangioma usually requires initial treatment; propranolol use is increasing as a first-line treatment despite the risk of stroke. We report a case of PHACE syndrome in a patient with large facial hemangiomas, left cerebellar hypoplasia, and an absent A1 segment of the anterior cerebral artery. After 1 year of treatment with oral propranolol, facial hemangiomas improved and normal development was observed until 24 months of age. Evaluation of PHACE syndrome is important in patients with large facial segmental hemangiomas, and propranolol can be considered a first-line therapy for hemangioma.

Síndrome de PHACES / PHACES syndrome

El síndrome de PHACE consiste en una entidad neurocutánea, cuyo nombre deriva del acrónimo en inglés para la constelación de alteraciones asociadas a algunos hemangiomas segmentarios de localización cefálica-cervical: Malformaciones de fosa Posterior, hemangiomas, anormalidades arteriales, coartación de la aorta y defectos cardíacos, anomalías oculares. Cuando se encuentran defectos de la línea media (Sternal defects) se denomina síndrome de PHACES. Su etiología es desconocida y se presenta con mayor frecuencia en mujeres. Requiere de un estudio exhaustivo de malformaciones asociadas, dado que pueden ser causa importante de morbimortalidad. Presentamos nuestra experiencia en dos casos clínicos, con excelente respuesta a tratamiento con propranolol, junto con una revisión de la literatura.

PHACE syndrome is a neurocutaneous entity, derived from an acronym that describes the constellation of alterations associated with some segmental hemangiomas in the cephaliccervical region: Posterior fossa malformations, hemangiomas, arterial anomalies, aorta coarctation, cardiac defects, and eye abnormalities. When midline anomalies are found (Sternal defects) the term PHACES syndrome is used. Its etiology is unknown, and is more frequent in females. It requires a thorough study of associated malformation, because is an important source or morbimortality. We present our experience with two cases, with excelent response to treatment with propranolol, along with a review of the literature.

Propranolol Therapy for Infantile Hemangioma.

Context: There has been widespread interest surrounding the use of beta-blockers (i.e. propranolol, timolol, nadolol, acebutolol) in the treatment of infantile hemangiomas (IH). Objective: To review literature evaluating treatment of IH with propranolol. Evidence Acquisition: We conducted a literature search on PubMed and investigated for case reports, case series, and controlled trials by using search terms including “hemangioma” and “propranolol.” Results: Data suggest that beta-blockers are efficacious in cutaneous, orbital, subglottic, and hepatic hemangiomas and assist in the resolution of ulcerated hemangiomas. Improvement has also been documented in children with PHACE syndrome. Propranolol produces favorable results in children who do not respond to steroids and with no long-term adverse effects. Propranolol should be administered with caution due to rare but serious side effects including hypoglycemia, wheezing, hypotension, and bradycardia. Additionally, recurrence of lesions following the cessation of treatment has been documented. Conclusions: Although large-scale randomized controlled trials must be conducted in order to further evaluate the safety and the possible role of propranolol in the treatment of IH, the reviewed literature suggests that propranolol carries promise as a potential replacement for corticosteroids as first-line therapy or as a part of a multimodal approach.

PHACE association with intracranial, oropharyngeal hemangiomas, and an atypical patent ductus arteriosus arising from the tortuous left subclavian artery in a premature infant / 소아과

PHACE association is a rare neurocutaneous condition in which facial hemangiomas associate with a spectrum of posterior fossa malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, and eye anomalies. We reported a case of PHACE association in a premature infant showing facial, intracranial, and oropharyngeal hemangiomas with evidence of the Dandy-Walker variant and complicated cardiovascular anomalies, including a right-sided aortic arch and an atypical patent ductus arteriosus arising from a tortuous left subclavian artery. To our knowledge, intracranial hemangiomas are rare in PHACE association, and a concomitant oropharyngeal hemangioma has not been previously reported in the PHACE association literature. In infants presenting with large, plaque-like facial hemangiomas, it is important to conduct active cardiovascular and neurological evaluations. Special attention should be given to the laryngoscopic examination to search for additional hemangiomas in the airway.