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Case Reports
. 2023 Jul 13:39:118-121.
doi: 10.1016/j.jdcr.2023.07.003. eCollection 2023 Sep.

Congenital panhypopituitarism unmasked by PHACE screening

Paula Finnegan  1 , Emma Tierney  1 , Siobhan Rafferty  1 , Orla Neylon  2 , Muriel Sadlier  1
Affiliations
Case Reports

Congenital panhypopituitarism unmasked by PHACE screening

Paula Finnegan et al. JAAD Case Rep. .
No abstract available

Keywords: PHACE; PHACE syndrome; PHACES; endocrinopathy; haemangioma; hemangioma; hypopituitarism; panhypopituitarism; segmental haemangioma.

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Conflict of interest statement

None disclosed.

Figures

Fig 1
Fig 1
Infantile hemangiomas left side of the neck—anterior view.
Fig 2
Fig 2
Arrow points to superficial vascular papule on lateral aspect of the neck.
Fig 3
Fig 3
Magnetic resonance imaging of the brain (sagittal view); yellow arrow shows posterior pituitary gland; green arrow shows empty sella turcica.
See this image and copyright information in PMC

References

    1. Frieden I.J., Reese V., Cohen D. PHACE syndrome: The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol. 1996;132(3):307–311. - PubMed
    1. Goddard D.S., Liang M.G., Chamlin S.L., Svoren B.M., Spack N.P., Mulliken J.B. Hypopituitarism in PHACES association. Pediatr Dermatol. 2006;23(5):476–480. - PubMed
    1. Denzer F., Denzer C., Lennerz B.S., Bode H., Wabitsch M. A case of phace syndrome and acquired hypopituitarism? Int J Pediatr Endocrinol. 2012;2012(1):20. - PMC - PubMed
    1. Steiner J.E., McCoy G.N., Hess C.P., et al. Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. Am J Med Genet. A. 2018;176(1):48–55. - PMC - PubMed
    1. Poindexter G., Metry D.W., Barkovich A.J., Frieden I.J. PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction. Pediatr Neurol. 2007;36(6):402–406. - PubMed

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