Dermatological findings in Rubinstein-Taybi Syndrome.

Rubinstein-Taybi Syndrome is a rare congenital multisystem syndrome inherited in an autosomal dominant pattern caused by mutations in CREBBP and EP300 genes in approximately 60% and 10% respectively. These genes encode two highly evolutionarily conserved, ubiquitously expressed, and homologous lysine-acetyltransferases, that are involved in number of basic cellular activities, such as DNA repair, cell proliferation, growth, differentiation, apoptosis of cells, and tumor suppression. It is mainly characterized by global developmental delay, moderate to severe intellectual disability, postnatal retardation, microcephaly, skeletal anomalies including broad/short, angled thumbs and/or large first toes, short stature, and dysmorphic facial features.

[Implementation of an early rheumatoid athritis unit for the early recognition and treatment of the disease].

Background: Early recognition of rheumatoid arthritis (RA) provides clinical benefits in terms of remission induction, reduced disease progression, and eventually treatment free remission.

Aim: To describe the setting of a Unit devoted exclusively to the recognition and treatment of early RA in patients referred from primary healthcare centers (PHC) in Chile.

Materials And Methods: Patients were referred from nine participating PHC from 2014 through 2016.