Endocrine manifestations of PHACE syndrome
-
Chansuda Bongsebandhu-phubhakdi
,
Therdpong Tempark
Abstract
PHACE syndrome is an uncommon disorder of posterior fossa anomalies, cervicofacial infantile hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and midline/ventral defects. Endocrine abnormalities including hypopituitarism and ectopic thyroid were rarely described. In this article we review occurrence, onset, presenting symptoms, hormonal treatments and outcomes of all endocrine abnormalities in PHACE syndrome. Eleven of 20 (55%) had hypothalamic-pituitary dysfunction and 10 of 20 (50%) had thyroid dysgenesis. A thorough understanding of the endocrine manifestations is important for clinicians to early identify endocrine involvement in PHACE and develop plans for monitoring and treatment of its complications.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission. CB interpreted the data, conceived and designed the study, conducted the work and drafted and revised the article; TT conceived and designed the study, conducted the work and revised the article; VS conceived and designed the study, conducted the work and revised the article.
Research funding: Grants for Development of New Faculty Staff, Ratchadaphiseksomphot Endowment Fund, Chulalongkorn University.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Frieden IJ, 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;132:307–11.10.1001/archderm.132.3.307Suche in Google Scholar
2. Metry DW, Haggstrom AN, Drolet BA, Baselga E, Chamlin S, et al. A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet A 2006;140:975–86.10.1002/ajmg.a.31189Suche in Google Scholar
3. Metry D, Heyer G, Hess C, Garzon M, Haggstrom A, et al. Consensus statement on diagnostic criteria for PHACE syndrome. Pediatrics 2009;124:1447–56.10.1542/peds.2009-0082Suche in Google Scholar
4. Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, et al. PHACE syndrome: consensus-derived diagnosis and care recommendations. J Pediatr 2016;178:24–33.e2.10.1016/j.jpeds.2016.07.054Suche in Google Scholar
5. Uihlein LC, Garzon MC, Goodwin G, Liang MG. Growth hormone replacement in patients with PHACE association and hypopituitarism. Pediatr Dermatol 2014;31:337–40.10.1111/pde.12306Suche in Google Scholar
6. Bayer ML, Frommelt PC, Blei F, Breur JM, Cordisco MR, et al. Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry). Am J Cardiol 2013;112:1948–52.10.1016/j.amjcard.2013.08.025Suche in Google Scholar
7. Burrows PE, Robertson RL, Mulliken JB, Beardsley DS, Chaloupka JC, et al. Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: report of eight patients. Radiology 1998;207:601–7.10.1148/radiology.207.3.9609880Suche in Google Scholar
8. Coats DK, Paysse EA, Levy ML. PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review. Ophthalmology 1999;106:1739–41.10.1016/S0161-6420(99)90350-0Suche in Google Scholar
9. Kronenberg A, Blei F, Ceisler E, Steele M, Furlan L, et al. Ocular and systemic manifestations of PHACES (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects and coarctation of the Aorta, Eye abnormalities, and Sternal abnormalities or ventral developmental defects) syndrome. J AAPOS 2005;9:169–73.10.1016/j.jaapos.2004.08.012Suche in Google Scholar PubMed
10. Goddard DS, Liang MG, Chamlin SL, Svoren BM, Spack NP, et al. Hypopituitarism in PHACES association. Pediatr Dermatol 2006;23:476–80.10.1111/j.1525-1470.2006.00287.xSuche in Google Scholar PubMed
11. Poindexter G, Metry DW, Barkovich AJ, Frieden IJ. PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction. Pediatr Neurol 2007;36:402–6.10.1016/j.pediatrneurol.2007.01.017Suche in Google Scholar PubMed
12. Ghosh A, Tibrewal SR, Thapa R. PHACES syndrome with congenital hypothyroidism. Indian Pediatr 2007;44:144–7.Suche in Google Scholar
13. Torer B, Gulcan H, Kilicdag H, Derbent M. PHACES syndrome with small, late-onset hemangiomas. Eur J Pediatr 2007;166:1293–5.10.1007/s00431-006-0391-xSuche in Google Scholar PubMed
14. Oza VS, Wang E, Berenstein A, Waner M, Lefton D, et al. PHACES association: a neuroradiologic review of 17 patients. AJNR Am J Neuroradiol 2008;29:807–13.10.3174/ajnr.A0937Suche in Google Scholar PubMed PubMed Central
15. Merheb M, Hourani R, Zantout MS, Azar ST. Endocrine dysfunction in a patient with PHACE syndrome, including port-wine stain of the right periorbital area. Endocr Pract 2010;16:255–9.10.4158/EP09179.CRSuche in Google Scholar PubMed
16. Altin H, Alp H, Sap F, Karatas Z, Baysal T, et al. PHACE syndrome with growth hormone deficiency and absence of bilateral internal carotid arteries: a case report. Pediatr Dermatol 2012;29:316–9.10.1111/j.1525-1470.2011.01540.xSuche in Google Scholar PubMed
17. Denzer F, Denzer C, Lennerz BS, Bode H, Wabitsch M. A case of PHACE syndrome and acquired hypopituitarism? Int J Pediatr Endocrinol 2012;2012:20.10.1186/1687-9856-2012-20Suche in Google Scholar PubMed PubMed Central
18. Carinci S, Tumini S, Consilvio NP, Cipriano P, Di Stefano A, et al. A case of congenital hypothyroidism in PHACE syndrome. J Pediatr Endocrinol Metab 2012;25:603–5.10.1515/jpem-2012-0002Suche in Google Scholar PubMed
19. Mamlouk MD, Yu JP, Asch S, Mathes EF. PHACE syndrome and congenitally absent thyroid gland at MR imaging. Clin Imaging 2016;40:237–40.10.1016/j.clinimag.2015.11.007Suche in Google Scholar PubMed
20. Valdivielso-Ramos M, Torrelo A, Martin-Santiago A, Campos M, Conde E, et al. Infantile hemangioma with minimal or arrested growth as the skin manifestation of PHACE syndrome. Pediatr Dermatol 2018;35:622–7.10.1111/pde.13597Suche in Google Scholar PubMed
21. Huang SA, Tu HM, Harney JW, Venihaki M, Butte AJ, et al. Severe hypothyroidism caused by type 3 iodothyronine deiodinase in infantile hemangiomas. N Engl J Med 2000;343:185–9.10.1056/NEJM200007203430305Suche in Google Scholar PubMed
©2019 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Mini Review
- Endocrine manifestations of PHACE syndrome
- Original Articles
- Quantitation of the arginine family amino acids in the blood of full-term infants perinatally in relation to their birth weight
- Effect of supplementation with omega-3 fatty acids on hypertriglyceridemia in pediatric patients with obesity
- Pediatric diabetes inpatient care: can medical staff knowledge be improved?
- Association of lipid profile and BMI Z-score in southern Iranian children and adolescents
- Arterial stiffness in children and adolescents with and without continuous insulin infusion
- Fasting during the holy month of Ramadan among older children and adolescents with type 1 diabetes in Kuwait
- Evaluation of the relationship between short-term glycemic control and netrin-1, a urinary proximal tubular injury marker in children with type 1 diabetes
- Incidence of diabetic ketoacidosis in newly diagnosed type 1 diabetes children in western Saudi Arabia: 11-year experience
- Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children
- Metabolic profile, cardiovascular risk factors and health-related quality of life in children, adolescents and young adults with congenital adrenal hyperplasia
- Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study
- Response to sapropterin hydrochloride (Kuvan®) in children with phenylketonuria (PKU): a clinical trial
- Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A in children: a single centre experience
- Benign thyroid nodules in pediatric patients: determining best practices for repeat ultrasound evaluations
- Letter to the Editor
- Thyroid function in males with fragile X syndrome
- Case Reports
- A case of a severe reaction following the use of bisphosphonates in a patient with osteogenesis imperfecta
- Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis
- Contiguous gene deletion in a Chinese family with X-linked nephrogenic diabetes insipidus: challenges in early diagnosis and implications for affected families
Artikel in diesem Heft
- Frontmatter
- Mini Review
- Endocrine manifestations of PHACE syndrome
- Original Articles
- Quantitation of the arginine family amino acids in the blood of full-term infants perinatally in relation to their birth weight
- Effect of supplementation with omega-3 fatty acids on hypertriglyceridemia in pediatric patients with obesity
- Pediatric diabetes inpatient care: can medical staff knowledge be improved?
- Association of lipid profile and BMI Z-score in southern Iranian children and adolescents
- Arterial stiffness in children and adolescents with and without continuous insulin infusion
- Fasting during the holy month of Ramadan among older children and adolescents with type 1 diabetes in Kuwait
- Evaluation of the relationship between short-term glycemic control and netrin-1, a urinary proximal tubular injury marker in children with type 1 diabetes
- Incidence of diabetic ketoacidosis in newly diagnosed type 1 diabetes children in western Saudi Arabia: 11-year experience
- Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children
- Metabolic profile, cardiovascular risk factors and health-related quality of life in children, adolescents and young adults with congenital adrenal hyperplasia
- Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study
- Response to sapropterin hydrochloride (Kuvan®) in children with phenylketonuria (PKU): a clinical trial
- Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A in children: a single centre experience
- Benign thyroid nodules in pediatric patients: determining best practices for repeat ultrasound evaluations
- Letter to the Editor
- Thyroid function in males with fragile X syndrome
- Case Reports
- A case of a severe reaction following the use of bisphosphonates in a patient with osteogenesis imperfecta
- Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis
- Contiguous gene deletion in a Chinese family with X-linked nephrogenic diabetes insipidus: challenges in early diagnosis and implications for affected families
