Síndrome de Silver Russell

El sindrome de Silver Russell es una enfermedad genetica clasificada como un desorden del imprinting con alteraciones geneticas y epigeneticas. Se caracteriza por presentar asimetria facial o de los miembros, cara triangular, clinodactilia y retraso del crecimiento intrauterino y posnatal. Estos pacientes tienen, ademas, un mayor riesgo de desarrollar un retraso madurativo de leve a moderado. Los hallazgos dermatologicos asociados que se han descripto hasta la actualidad son alteraciones de la pigmentacion (como maculas cafe con leche e hiperpigmentacion difusa con areas hipopigmentadas escasas y pequenas) e hiperhidrosis. Se presenta una paciente con sindrome de Silver Russell evaluada en nuestro servicio de Dermatologia... Silver Russell syndrome is a genetic disease classified as an imprinting disorder with genetic and epigenetic disturbances. It is characterized by asymmetric face or limb-length asymmetry, triangular-shaped face, clinodactyly and intrauterine growth retardation together with postnatal growth deficiency. These patients are at significant risk for mild to moderate developmental delay (both motor and cognitive) and learning disabilities. The associated skin manifestations reported are pigmentation disorders (that include cafe au lait macules or diffuse brown pigmentation with a few small hypopigmented areas) and hyperhidrosis. We present a patient with Silver-Russell syndrome evaluated at our Dermatology Department...