Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab.

Abstract:

: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.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Poulton C,Gration D,Murray K,Baynam G,Halbert A

doi

10.1111/pde.13995

subject

Has Abstract

pub_date

2019-11-01 00:00:00

pages

1002-1003

issue

6

eissn

0736-8046

issn

1525-1470

journal_volume

36

pub_type

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