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.
- Congenital hypothyroidism
- Corpus callosum
- Neurocutaneous syndrome
- Vascular malformation
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Pediatrics, Perinatology, and Child Health