El presente estudio describe un caso de un niño de 6 años 9 meses de edad, atendido en el Centro de De-sarrollo Infantil de la Universidad de Cuenca (CEDIUC), con las características del Síndrome de Coffin –Siris. El cariotipo 46xy, inv9 (p12q13), determinó por rasgos clíni-cos, el diagnóstico d...
Abstract Steatocystoma multiplex is a rare genetic disorder characterized by the presence of hamartomatous malformations at the junction of the pilosebaceous duct. It consists of encapsulated cystic lesions in the dermis, with adjacent sebaceous gland. When associated with inflammation, resembling hidrad...
Abstract A 78-year-old patient presented with shortness of breath after falling down. Transthoracic echocardiogram showed an extensive thrombus in the right atrium (RA), extensive thrombosis of the inferior vena cava (IVC), and abdominal aortic aneurysm (AAA). A magnetic resonance confirmed the thrombosi...
Aneurisma de la Aorta Abdominal/complicaciones,
Aneurisma de la Aorta Abdominal/diagnóstico por imagen,
Aneurisma de la Aorta Abdominal/patología,
Ecocardiografía/métodos,
Atrios Cardíacos/diagnóstico por imagen,
Atrios Cardíacos/patología,
Ventrículos Cardíacos/diagnóstico por imagen,
Ventrículos Cardíacos/patología,
Imagen por Resonancia Magnética/métodos,
Enfermedades Raras,
Trombosis/diagnóstico por imagen,
Trombosis/etiología,
Trombosis/patología,
Tomografía Computarizada por Rayos X/métodos,
Vena Cava Inferior/diagnóstico por imagen,
Vena Cava Inferior/patología
Abstract Elastoma is a connective tissue nevus characterized by changes in elastic fibers. It can be congenital or acquired, and is usually diagnosed before puberty. Associated with osteopoikilosis, it is known as Buschke-Ollendorff syndrome. Histopathology with specific staining for elastic fibers is cr...
Abstract A 40-year-old female patient with a 5-year history of systemic lupus erythematosus was referred to our policlinic with complaints of erythema, atrophy, and telangiectasia on the upper eyelids for 8 months. No associated mucocutaneous lesion was present. Biopsy taken by our ophthalmology departme...
Abstract Lipomas are very common benign slow-growing soft tissue neoplasms composed of mature adipose tissue mostly diagnosed in the fifth decade of life. These tumors rarely present in the oral cavity, representing less than approximately 5% of all benign mouth tumors. They are usually less than 2cm in ...
Abstract Phacomatosis pigmentovascularis is a rare syndrome, defined as the simultaneous presence of vascular nevus and melanocytic nevus in the same patient. We report the case of a 53-year-old woman presented with dermal melanosis and extensive vascular nevus, which match the typical manifestations of ...
Abstract Acral persistent papular mucinosis (APPM) is a rare subtype of localized lichen myxedematosus. It consists of small papules localized exclusively on the back of the hands, wrists and extensor aspects of distal forearms with no other clinical or laboratory manifestations. The lesions tend to pers...
RESUMO O processo de hospitalização pode trazer à criança sofrimento psicológico e físico, principalmente quando acometida por uma doença crônica e rara. Este trabalho tem como objetivo relatar a experiência acadêmica, enfatizando a importância da implementação do processo de enfermagem na a...
Proceso de Enfermería,
Niño Hospitalizado,
Enfermedad Crónica/enfermería,
Degeneración Hepatolenticular/enfermería,
Educación en Enfermería,
Atención de Enfermería,
Enfermedades Raras/enfermería,
Dolor/enfermería,
Hospitalización,
Emociones,
Enfermeras y Enfermeros,
Instituciones Académicas
Resumen El presente estudio se centra en la estrategia de comunicación de las organizaciones de pacientes con enfermedades raras. Los objetivos de estas organizaciones son: educar e informar sobre estas patologías, sensibilizar sobre sus problemáticas y obtener legitimación social para hacer visibles...
