Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin-36 receptor antagonist.

The article presents the case of a child patient with severe neonatal-onset pustular psoriasis that is recurrently exacerbated. He also experienced high fever related to complex developmental syndrome such as microcephaly, aortic stenosis and osteomyelitis. He was diagnosed with generalized pustular psoriasis (GPP), which is a severe inflammatory skin disease.