RESUMEN
We describe a 5 years old girl who presented to the multidisciplinary skeletal dysplasia clinic following excision of two bony lumps from her fingers. Based on clinical examination, radiolographs and histological results an initial diagnosis of hereditary multiple exostosis (HME) was made. Four years later she developed further lumps which had the radiological appearance of enchondromas. The appearance of both exostoses and enchondromas suggested a possible diagnosis of metachondromatosis. Genetic testing revealed a splice site mutation at the end of exon 11 on the PTPN11 gene, confirming the diagnosis of metachondromatosis. While both single or multiple exostoses and enchondromas occur relatively commonly on their own, the appearance of multiple exostoses and enchondromas together is rare and should raise the differential diagnosis of metachondromatosis. Making this diagnosis is important as the lesions in metachondromatosis may spontaneously resolve and therefore surgical intervention is often unnecessary. We discuss the diagnostic findings, genetic causes, treatment and prognosis of this rare condition of which less than thirty cases have previously been reported.
Asunto(s)
Neoplasias Óseas/genética , Condromatosis/genética , Encondromatosis/genética , Exostosis Múltiple Hereditaria/genética , Proteína Tirosina Fosfatasa no Receptora Tipo 11/genética , Neoplasias Óseas/diagnóstico , Preescolar , Condromatosis/diagnóstico , Encondromatosis/diagnóstico , Exostosis Múltiple Hereditaria/diagnóstico , Femenino , HumanosRESUMEN
Organizations for runaway and homeless youth (RHY) provide essential services to highly vulnerable youth who have a wide variety of basic needs and complex psychosocial challenges. We present a mixed-methods case study of an RHY organization to identify the specific mechanisms and processes by the organization successfully promotes engagement and positive development of the youth they serve. We analyzed the qualitative and quantitative data separately and then integrated these two strands of data. Our findings indicate a consistent convergence of responses across the data sources, in both the qualitative and quantitative strands, that consistently reflect the organization's youth-centered approach. Primary among these policies and practices is the emphasis on building and maintaining empathic relationships with youth, the promotion of youths' autonomy, and an institutional culture of continuous evaluation of how the organization is meeting their mission to provide services that reflect best practices.