Four new cases of PHACES syndrome: variable phenotypic expression and endocrine features

Abstract

PHACES syndrome is a neurocutaneous condition characterized by the coexistence of large facial haemangiomas and at least one feature among posterior fossa malformations, cardiac and arterial anomalies, eye defects and sternal clefting. We review and discuss the phenotypes and the endocrine aspects of PHACES syndrome, hypothesizing that endocrine anomalies, although rare, could be considered as feature of the disease. We described four new cases representative of the wide variable phenotype of this syndrome, commenting on the possible phenotypic expression. Two children displayed endocrine anomalies, sporadically described among PHACES subjects. One of them developed a transient hyperthyreotropinemia induced by interferon alpha-2alpha treatment for a giant facial haemangioma, while the second presented with congenital hypothyroidism with an in situ thyroid gland, a trait previously unreported in the syndrome. PHACES syndrome has a wide variable phenotypic expression and endocrine anomalies, especially hypothyroidism, may represent a trait of the syndrome and should be always investigated.