Neurofibromatosis: caso clínico presentación poco habitual. oportunidad diagnostica familiar

Resumen La Neurofibromatosis (NF) es una genodermatosis autosómica dominante. La literatura reconoce varios síndromes clínicos diferentes dentro de los cuáles se describen tres formas principales: Neurofibromatosis tipo 1, Neurofibromatosis tipo 2 y Schwanomatosis. La más común de las tres es la NF1. Con una incidencia de 1 en 3000 y una penetrancia del 100% presenta amplio espectro de manifestaciones clínicas. Nosotros presentamos un caso de sexo femenino que consulta inicialmente por dolor relacionado a una lesión compatible con neuro fibroma con componente epidérmico y subcutáneo. Sin diagnóstico previo de la enfermedad a los 33 años, logramos la correspondiente captación de todos los integrantes de su familia quienes tampoco tenían diagnóstico.

Summary Neurofibromatosis is an autosomal dominant genodermatosis. The literature recognizes several different clinical syndromes within which three main forms are described: Neurofibromatosis type 1, Neurofibromatosis type 2 and Schwanomatosis. The most common of the three is NF1. With an incidence of 1 in 3000 and a penetrance of 100%, it presents a broad spectrum of clinical manifestations. We present a female case that initially consulted for pain related to a lesion compatible with neurofibroma with an epidermal and subcutaneous component. Without previous diagnosis of the disease at 33 years, we were able to diagnose all the members of his family, who also had no diagnosis.

Estigma de obesidad, su impacto en las víctimas y en los Equipos de Salud: una revisión de la literatura / The effects of weight stigmatization on obese people and health care professionals

Weight stigmatization is defined as the devaluation of others based on weight, a visible and specific characteristic that cannot be hidden. The consequences of weight stigmatization have been studied in victims and healthcare providers. This narrative literature review describes the consequences of weight stigmatization in victims and healthcare practitioners. According to several studies, high levels of psychological dysfunction in victims coexist with negative stereotypes in healthcare professionals, since the latter are exposed to the same negative media messages about obesity. Thus, weight stigmatization contributes to increase the burden of obesity, since when obese patients perceive that they are discriminated by healthcare professionals, their unhealthy behaviors persist and they have a low adherence to obesity treatment and medical recommendations.