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Pediatr Dermatol ; 36(5): 618-622, 2019 Sep.
Article in English | MEDLINE | ID: mdl-31222913

ABSTRACT

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.


Subject(s)
Aortic Coarctation/diagnosis , Aortic Coarctation/etiology , Eye Abnormalities/diagnosis , Eye Abnormalities/etiology , Neurocutaneous Syndromes/diagnosis , Neurocutaneous Syndromes/etiology , Adolescent , Adult , Age Factors , Aortic Coarctation/psychology , Cross-Sectional Studies , Eye Abnormalities/psychology , Female , Humans , Male , Middle Aged , Neurocutaneous Syndromes/psychology , Surveys and Questionnaires , Symptom Assessment , Young Adult
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