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Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10. J Pediatr 2024 Apr;267:113907

Date

01/14/2024

Pubmed ID

38218370

DOI

10.1016/j.jpeds.2024.113907

Scopus ID

2-s2.0-85185606798 (requires institutional sign-in at Scopus site)   1 Citation

Abstract

OBJECTIVE: To characterize long-term outcomes of PHACE syndrome.

STUDY DESIGN: Multicenter study with cross-sectional interviews and chart review of individuals with definite PHACE syndrome ≥10 years of age. Data from charts were collected across multiple PHACE-related topics. Data not available in charts were collected from patients directly. Likert scales were used to assess the impact of specific findings. Patient-Reported Outcomes Measurement Information System (PROMIS) scales were used to assess quality of life domains.

RESULTS: A total of 104/153 (68%) individuals contacted participated in the study at a median of 14 years of age (range 10-77 years). There were infantile hemangioma (IH) residua in 94.1%. Approximately one-half had received laser treatment for residual IH, and the majority (89.5%) of participants were satisfied or very satisfied with the appearance. Neurocognitive manifestations were common including headaches/migraines (72.1%), participant-reported learning differences (45.1%), and need for individualized education plans (39.4%). Cerebrovascular arteriopathy was present in 91.3%, with progression identified in 20/68 (29.4%) of those with available follow-up imaging reports. Among these, 6/68 (8.8%) developed moyamoya vasculopathy or progressive stenoocclusion, leading to isolated circulation at or above the level of the circle of Willis. Despite the prevalence of cerebrovascular arteriopathy, the proportion of those with ischemic stroke was low (2/104; 1.9%). PROMIS global health scores were lower than population norms by at least 1 SD.

CONCLUSIONS: PHACE syndrome is associated with long-term, mild to severe morbidities including IH residua, headaches, learning differences, and progressive arteriopathy. Primary and specialty follow-up care is critical for PHACE patients into adulthood.

Author List

Braun M, Frieden IJ, Siegel DH, George E, Hess CP, Fox CK, Chamlin SL, Drolet BA, Metry D, Pope E, Powell J, Holland K, Ulschmid C, Liang MG, Barry KK, Ho T, Cotter C, Baselga E, Bosquez D, Jain SN, Bui JK, Lara-Corrales I, Funk T, Small A, Baghoomian W, Yan AC, Treat JR, Hogrogian GS, Huang C, Haggstrom A, List M, McCuaig CC, Barrio V, Mancini AJ, Lawley LP, Grunnet-Satcher K, Horii KA, Newell B, Nopper A, Garzon MC, Scollan ME, Mathes EF

Author

Kristen E. Holland MD Associate Professor in the Dermatology department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Adolescent
Adult
Aged
Aortic Coarctation
Child
Cross-Sectional Studies
Eye Abnormalities
Headache
Humans
Infant
Middle Aged
Neurocutaneous Syndromes
Quality of Life
Young Adult