Variable skin findings in two siblings with KDSR mutations manifesting in PERIOPTER syndrome.

Pathogenic variants in the KDSR gene give rise to a Mendelian disorder called PERIOPTER syndrome. The disease is caused by a disruption in ceramide synthesis, with an impact on both skin and bone marrow. Patients with PERIOPTER syndrome show intermittent thrombocytopenia and/or associated anemia as well as disorders of keratinization.

Injection site reactions after long-term subcutaneous delivery of drisapersen: a retrospective study.

A retrospective study in which we reviewed the hospital files of a subset of 7 patients with Duchenne muscular dystrophy participating in the open-label phase I/II PRO051-02 study in Leuven. The objective of this study was to describe in detail the injection site reactions in these children treated with drisapersen (PRO-051), a 2'-O-methyl phosphorothioate RNA antisense oligonucleotide, that induces exon 51 skipping in Duchenne muscular dystrophy. Antisense oligonucleotides, restoring the reading frame by skipping of exons, have become a potential treatment of Duchenne muscular dystrophy and other monogenetic diseases.