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.
Subject(s)
Aortic Coarctation , Eye Abnormalities , Neurocutaneous Syndromes , Humans , Infant , Child , Adolescent , Young Adult , Adult , Middle Aged , Aged , Neurocutaneous Syndromes/complications , Eye Abnormalities/complications , Aortic Coarctation/complications , Quality of Life , Cross-Sectional Studies , HeadacheABSTRACT
El síndrome PHACES representa un espectro de anormalidades: malformaciones de la fosa posterior, hemangiomas segmentarios, anomalías vasculares, cardíacas, oculares y hendidura esternal o rafe supraumbilical, asociado también a hemangiomatosis extracutánea.Comunicamos el caso de una paciente de 4 meses de edad, con un hemangioma segmentario gigante en la hemicara izquierda, además de la presencia de una malformación de Dandy-Walker, malformación cardiovascular, hendidura esternal e hipotiroidismo.También tenía un hemangioma en el hígado y otras lesiones vasculares en el intestino.
PHACES syndrome represents a spectrum of anomalies such as posterior fossa malformations, segmental hemangiomas, vascular and cardiac abnormalities, eye abnormalities and sternal cleft or raphe supraumbilical, hemangiomatosis extracutánea. We present a 4 months of age female, who presented a segmental giant hemangioma in the left hemiface with Dandy-Walker malformation, cardiovascular malformation, sternal cleft and hypothyroidism, who also presented an hemangioma in the liver and other vascular lesions in the intestine.