STING-associated vasculopathy with onset in infancy (SAVI) presenting with skin lesions.

STING-associated vasculopathy with onset in infancy (SAVI) is caused by pathogenic gain-of-function variants in the gene TMEM173 (also named stimulator of interferon genes, STING1). This report details the case of an 11-year-old girl with SAVI who presented with skin-limited symptoms and discusses the phenotype-genotype correlations of the TMEM173 variant present in our patient. Treatment of SAVI focuses on preventing the development or progression of organ damage by reducing systemic inflammation. We summarize the available treatments for this syndrome.

Diagnóstico radiológico del encondroma protuberans humeral / Radiological diagnosis of enchondroma protuberans of the humerus

El encondroma protuberans (EP) es un tumor exofítico de estirpe cartilaginosa, poco frecuente, que se describe como una lesión ósea intramedular que protruye por uno de los lados del hueso afecto a través de un defecto cortical, extendiéndose a las partes blandas adyacentes. Sus peculiares características de imagen hacen que los diagnósticos diferenciales principales sean el osteocondroma, el condrosarcoma y los tumores condrales periósticos. En este artículo describimos los hallazgos radiológicos del EP en el húmero en dos pacientes y revisamos la bibliografía, resaltando las características de imagen que pueden permitir un diagnóstico definitivo. Identificar la conexión entre los dos componentes de la lesión a través de un defecto cortical es un hallazgo clave en el diagnóstico. Con las técnicas de imagen disponibles, especialmente la resonancia magnética (RM), podemos establecer el diagnóstico de este tipo de lesiones, permitiendo la elección del tratamiento adecuado y disminuyendo la posibilidad de recidivas locales o malignización (AU)

Enchondroma protuberans (EP) is an uncommon exophytic cartilaginous tumor described as an intramedullary osseous lesion that protrudes through a cortical defect in one of the sides of the affected bone and expands to the adjacent soft tissues. Due to its peculiar features on imaging studies, the main differential diagnosis is with osteochondroma, chondrosarcoma, and periosteal chondral tumors. In this article, we describe the imaging findings in two patients with EP in the humerus. We review the literature and discuss the imaging features that can enable a definitive diagnosis. The identification of the connection between the two components of the lesion through a cortical defect is a key finding for the diagnosis. Available imaging techniques, especially MRI, make it possible to establish the diagnosis in this type of lesions and thus to choose the appropriate treatment, reducing the chance of local recurrence and malignant transformation (AU)

[Radiological diagnosis of enchondroma protuberans of the humerus]. / Diagnóstico radiológico del encondroma protuberans humeral.

Enchondroma protuberans (EP) is an uncommon exophytic cartilaginous tumor described as an intramedullary osseous lesion that protrudes through a cortical defect in one of the sides of the affected bone and expands to the adjacent soft tissues. Due to its peculiar features on imaging studies, the main differential diagnosis is with osteochondroma, chondrosarcoma, and periosteal chondral tumors. In this article, we describe the imaging findings in two patients with EP in the humerus. We review the literature and discuss the imaging features that can enable a definitive diagnosis. The identification of the connection between the two components of the lesion through a cortical defect is a key finding for the diagnosis. Available imaging techniques, especially MRI, make it possible to establish the diagnosis in this type of lesions and thus to choose the appropriate treatment, reducing the chance of local recurrence and malignant transformation.