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Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab
Author(s) -
Poulton Cathryn,
Gration Dylan,
Murray Kevin,
Baynam Gareth,
Halbert Anne
Publication year - 2019
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13995
Subject(s) - medicine , congenital ichthyosis , ichthyosis , phenotype , dermatology , ustekinumab , genetics , pathology , gene , biology , disease , infliximab
Autosomal recessive congenital ichthyosis is a genetically and phenotypically heterogenous group of scaling skin disorders. We describe a patient with ARCI caused by homozygous variants in NIPAL4 , in whom the dermatologic phenotype and an associated arthropathy, markedly improved with ustekinumab.