Severe Generalized Pustular Psoriasis Successfully Treated with Ixekizumab: A Case Report
Sign Up to like & getrecommendations! Published in 2022 at "Case Reports in Dermatology"
DOI: 10.1159/000526037
Abstract: Generalized pustular psoriasis (GPP) is a severe and potentially life-threatening type of psoriasis. We present the case of a patient with severe GPP, at first unsuccessfully treated with cyclosporine. We chose to treat the patient… read more here.
Keywords: severe generalized; generalized pustular; psoriasis successfully; pustular psoriasis ... See more keywords
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations
Sign Up to like & getrecommendations! Published in 2020 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000521
Abstract: Objective To expand the clinical phenotype of POLR3A mutations by assessing the functional consequences of a missense and a splicing acceptor mutation. Methods We performed whole-exome sequencing for identification of likely pathogenic mutations in a… read more here.
Keywords: severe generalized; generalized dystonia; metabolic acidosis; polr3a mutations ... See more keywords