A case of congenital hypothyroidism in PHACE syndrome

Silvia Carinci, Stefano Tumini, Nicola Pietro Consilvio, Paola Cipriano, Alessia Di Stefano, Nadia Vercellino, Pietro Dalmonte, Francesco Chiarelli

Research output: Contribution to journalArticlepeer-review


Although hemangiomas, benign tumors of vascular origin, are very common among children and represent the most frequent benign tumor at that age, their association with other malformations constitutes a rare neurocutaneous disorder called PHACE syndrome. This condition is characterized by posterior fossa anomalies, hemangioma of the face, arterial alterations, cardiac defects, and eye anomalies (as represented by the acronym PHACE); sternum defects, endocrinopathies, and thyreopathies may be present as well. In this report, we describe a case of congenital hypothyroidism due to an empty thyroid site, as demonstrated by ultrasound, in an Italian child.

Original languageEnglish
Pages (from-to)603-605
Number of pages3
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number5-6
Publication statusPublished - Jun 1 2012


  • Congenital hypothyroidism
  • Corpus callosum
  • Hemangioma
  • Neurocutaneous syndrome
  • Vascular malformation

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health


Dive into the research topics of 'A case of congenital hypothyroidism in PHACE syndrome'. Together they form a unique fingerprint.

Cite this