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 journalArticle

Abstract

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
Volume25
Issue number5-6
DOIs
Publication statusPublished - Jun 1 2012

Keywords

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

ASJC Scopus subject areas

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

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

  • Cite this

    Carinci, S., Tumini, S., Consilvio, N. P., Cipriano, P., Di Stefano, A., Vercellino, N., Dalmonte, P., & Chiarelli, F. (2012). A case of congenital hypothyroidism in PHACE syndrome. Journal of Pediatric Endocrinology and Metabolism, 25(5-6), 603-605. https://doi.org/10.1515/JPEM-2012-0002