Work

Congenital panhypopituitarism unmasked by PHACE screening

Year: 2023

Type: article

Abstract: PHACES (OMIM-606519) is a congenital neurocutaneous syndrome describing the association of Posterior fossa brain malformations, segmental cervicofacial infantile Hemangiomas (IHs), Arterial anomalies, Cardiac defects, Eye anomalies, and ventral developmental defects, such as Sternal clefting or Supraumbilical raphe.1-3 Approximately 50% of patients with PHACE syndrome have structural brain anomalies.4 Congenital and acquired endocrinopathies are a well-recognized, although rare, disease association.

Source: JAAD Case Reports

DOI: 10.1016/j.jdcr.2023.07.003

Authors: Paula Finnegan, Emma Tierney, Siobhan Rafferty, Orla Neylon, Muriel Sadlier

Institution: University Hospital Limerick

Language: English

Topic: Pituitary Gland Disorders and Treatments

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $675