Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10

被引:5
作者
Braun, Mitchell [1 ,2 ]
Frieden, Ilona J. [2 ]
Siegel, Dawn H. [3 ]
George, Elizabeth [4 ]
Hess, Christopher P. [4 ]
Fox, Christine K. [5 ]
Chamlin, Sarah L. [6 ]
Drolet, Beth A. [7 ]
Metry, Denise [8 ]
Pope, Elena [9 ]
Powell, Julie [10 ]
Holland, Kristen [11 ]
Ulschmid, Caden [11 ]
Liang, Marilyn G. [12 ]
Barry, Kelly K. [12 ]
Ho, Tina [12 ]
Cotter, Chantal [12 ]
Baselga, Eulalia [13 ]
Bosquez, David [13 ]
Jain, Surabhi Neerendranath [3 ]
Bui, Jordan K. [3 ]
Lara-Corrales, Irene [9 ]
Funk, Tracy [14 ]
Small, Alison [14 ]
Baghoomian, Wenelia [14 ]
Yan, Albert C. [15 ]
Treat, James R. [15 ]
Hogrogian, Griffin Stockton [15 ]
Huang, Charles [15 ]
Haggstrom, Anita [16 ]
List, Mary [16 ]
Mccuaig, Catherine C. [10 ]
Barrio, Victoria [17 ]
Mancini, Anthony J. [6 ]
Lawley, Leslie P. [18 ]
Grunnet-Satcher, Kerrie [18 ]
Horii, Kimberly A. [19 ]
Newell, Brandon [19 ]
Nopper, Amy [19 ]
Garzon, Maria C. [20 ]
Scollan, Margaret E. [20 ]
Mathes, Erin F. [2 ]
机构
[1] Univ Calif San Francisco, Sch Med, San Francisco, CA 94143 USA
[2] Univ Calif San Francisco, Dept Dermatol, San Francisco, CA 94143 USA
[3] Stanford Univ, Dept Dermatol, Palo Alto, CA USA
[4] Univ Calif San Francisco, Dept Radiol & Biomed Imaging, San Francisco, CA 94143 USA
[5] Univ Calif San Francisco, Dept Neurol & Pediat, San Francisco, CA 94143 USA
[6] Northwestern Univ, Lurie Childrens Hosp, Feinberg Sch Med, Dept Dermatol, Chicago, IL USA
[7] Univ Wisconsin, Dept Dermatol, Madison, WI USA
[8] Baylor Coll Med, Texas Childrens Hosp, Dept Dermatol, Houston, TX USA
[9] Univ Toronto, Hosp Sick Children, Temerty Fac Med, Div Pediat Dermatol, Toronto, ON, Canada
[10] Univ Montreal, St Justine Univ Hosp Ctr, Dept Pediat, Div Dermatol, Montreal, PQ, Canada
[11] Med Coll Wisconsin, Dept Dermatol, Milwaukee, WI USA
[12] Harvard Med Sch, Boston Childrens Hosp, Dept Dermatol, Boston, MA USA
[13] Hosp Santa Creu & Sant Pau, Dept Dermatol, Barcelona, Spain
[14] Oregon Hlth & Sci Univ, Dept Dermatol & Pediat, Portland, OR USA
[15] Univ Penn, Childrens Hosp Philadelphia, Perelman Sch Med, Dept Pediat & Dermatol, Philadelphia, PA USA
[16] Indiana Univ Sch Med, Dept Dermatol, Indianapolis, IN USA
[17] Univ Calif San Diego, Rady Childrens Hosp, Dept Dermatol, San Diego, CA USA
[18] Emory Univ, Sch Med, Dept Dermatol, Atlanta, GA USA
[19] Childrens Mercy Hosp & Clin, Div Dermatol, Kansas City, MO USA
[20] Columbia Univ, Vagelos Coll Phys & Surg, Dept Dermatol, New York, NY USA
关键词
CEREBRAL VASCULOPATHY; ARTERIAL ANOMALIES; CHILDREN; HEMANGIOMAS; MALFORMATIONS; PROPRANOLOL; BRAIN; EYE;
D O I
10.1016/j.jpeds.2024.113907
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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 310 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%), participantreported 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 arteriopathy present 91.3%, progression (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.
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