RESUMO
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.
Assuntos
Coartação Aórtica , Anormalidades do Olho , Síndromes Neurocutâneas , Humanos , Lactente , Criança , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Síndromes Neurocutâneas/complicações , Anormalidades do Olho/complicações , Coartação Aórtica/complicações , Qualidade de Vida , Estudos Transversais , CefaleiaRESUMO
Tricho-dento-osseous syndrome (TDOS) is a rare ectodermal dysplasia caused by mutations in the DLX3 gene and it is not usually included as a cause of syndromic woolly hair. We present a new case of TDOS with a novel DLX3 variant and woolly hair.
Assuntos
Doenças do Cabelo , Fatores de Transcrição , Humanos , Fatores de Transcrição/genética , Proteínas de Homeodomínio/genética , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/genética , CabeloRESUMO
A 7-year-old girl presented with proximal muscle weakness and skin lesions. Physical examination revealed violaceous papules on the right forearm in a blaschkoid distribution. Her symptoms and test results were consistent with juvenile dermatomyositis. An unusual superimposed segmental manifestation of this disease is discussed.
