Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome.

María Fernández-Ibieta,Juan Carlos López-Gutiérrez

doi:10.1155/2015/487562

Abstract

PHACE syndrome is a neurocutaneous disorder characterized by large cervicofacial infantile hemangiomas and associated anomalies: posterior fossa brain malformation, hemangioma, arterial cerebrovascular anomalies, coarctation of the aorta and cardiac defects, and eye/endocrine abnormalities of the brain. When ventral developmental defects (sternal clefting or supraumbilical raphe) are present the condition is termed PHACE. In this report, we describe three PHACE cases that presented unique features (affecting one of the organ systems described for this syndrome) that have not been described previously. In the first case, a definitive PHACE association, the patient presented with an ipsilateral mesenteric lymphatic malformation, at the age of 14 years. In the second case, an anomaly of the posterior segment of the eye, not mentioned before in PHACE literature, a retinoblastoma, has been described. Specific chemotherapy avoided enucleation. And, in the third case, the child presented with an unusual midline frontal bone cleft, corresponding to Tessier 14 cleft. Two patients' hemangiomas responded well to propranolol therapy. The first one was followed and treated in the pre-propranolol era and had a moderate response to corticoids and interferon.

Highlights

PHACE association affects 2.3% of all patients with infantile hemangioma (IH) and consists of a plaque-like IH in a “segmental” dermatomal distribution of the face with at least one of the following anomalies: posterior fossa brain malformation, hemangioma, arterial cerebrovascular anomalies, coarctation of the aorta and cardiac defects, and eye/endocrine abnormalities
Among others, the Sturge-Weber syndrome, which is defined as capillary malformation that is already present at birth, opposite to IH, which develops along the first weeks of life [5]
The hemangiomas in PHACES tend to be big (>5 cm) and evolve as a usual hemangioma in three phases, including development, arrest, and involution. It is seen in approximately 30% of those with >5 cm segmental hemangioma patients. They are segmental plaque-like hemangiomas, derived from embryological protuberances known as placodes, which contain neural crest cell migrated from the dorsal crest and develop into the mandibular, maxillar, and frontonasal processes [6, 7]

Summary

Introduction

PHACE association affects 2.3% of all patients with infantile hemangioma (IH) and consists of a plaque-like IH in a “segmental” dermatomal distribution of the face with at least one of the following anomalies: posterior fossa brain malformation, hemangioma, arterial cerebrovascular anomalies, coarctation of the aorta and cardiac defects, and eye/endocrine abnormalities. Cerebrovascular anomalies are the most common associated finding (72%) [1, 4]. Because 8% of patients might have a stroke in infancy and 42% have a structural brain anomaly, patients with suspected PHACE association should have an MRI to evaluate brain structures and vasculature. Treatment is multidisciplinary and the angiomatous plaque usually responds well to propranolol [1,2,3]

Cases Presentation

Findings

Discussion