Natural history of PHACE syndrome: A survey of adults with PHACE
Autor: | Francine Blei, Beth A. Drolet, Ilona J. Frieden, Maria‐Laura Cossio, Maria C. Garzon, Julie Powell, Mohit Maheshwari, Dawn H. Siegel, Denise W. Metry, Olivia M. T. Davies, Christine T. Lauren, Nicole S. Stefanko, Catherine McCuaig, Sumaiya S. Salman |
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Rok vydání: | 2019 |
Předmět: |
Adult
Male Infertility Pediatrics medicine.medical_specialty Adolescent Hearing loss Dermatology Aortic Coarctation Young Adult 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Surveys and Questionnaires Recall bias Health care medicine Humans Eye Abnormalities Response rate (survey) business.industry Neurocutaneous Syndromes Age Factors Middle Aged medicine.disease Natural history Cross-Sectional Studies 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Cohort Female Symptom Assessment medicine.symptom Headaches business |
Zdroj: | Pediatric Dermatology. 36:618-622 |
ISSN: | 1525-1470 0736-8046 |
Popis: | Background Awareness of PHACE syndrome has increased; however, little information exists regarding its natural history, especially in patients over the age of 18. We aim to describe the natural history of PHACE to enhance clinical management and counseling of patients. Methods A cohort of patients ≥ 18 years was identified through the PHACE Syndrome Registry and a Vascular Anomalies Clinic Database. A cross-sectional survey was designed after a review of the literature by PHACE experts (IF, JP, DS). Questions were selected by consensus, and the survey was conducted using the Qualtrics platform and via in-person interviews. A 75% response rate was found. Results Eighteen adults-17 females and one transgender male-completed the survey. Respondents ranged in age from 18 to 59, with 24 being the mean age. Eighty-nine percent reported experiencing headaches, and 17% reported experiencing acute but transient symptoms mimicking acute ischemic stroke, later diagnosed as atypical migraines. Thirty-three percent reported hearing loss, and 67% endorsed dental issues. One patient experienced two arterial dissections. Three-fourths who attempted conception were successful, and none of their children had clinical features of PHACE. Because results were based on a retrospective survey, data captured were prone to recall bias and not objective. Results were limited by a small sample size. Conclusions Health care providers should be aware of a possible increased risk of neurovascular complications, including atypical migraines mimicking transient ischemic attacks and arterial dissection, in adults with PHACE. Heritability has not been demonstrated, and future studies are needed to assess the risk of infertility. |
Databáze: | OpenAIRE |
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