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

Cathryn Poulton; Dylan Gration; Kevin Murray; Gareth Baynam; Anne Halbert

doi:10.1111/pde.13995

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

Pediatr Dermatol. 2019 Nov;36(6):1002-1003. doi: 10.1111/pde.13995. Epub 2019 Sep 18.

Authors

Cathryn Poulton^{1

2}, Dylan Gration^{1

3}, Kevin Murray⁴, Gareth Baynam^{1

3

5}, Anne Halbert⁶

Affiliations

¹ Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.
² Department of Paediatrics and Neonatology, Fiona Stanley Hospital, Perth, Australia.
³ The Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Australia.
⁴ Department of Rheumatology, Perth Children's Hospital, Perth, Australia.
⁵ The Undiagnosed Diseases Program, King Edward Memorial Hospital, Perth, Australia.
⁶ Department of Dermatology, Perth Children's Hospital, Perth, Australia.

PMID: 31532840
DOI: 10.1111/pde.13995

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.

Keywords: arthropathy; erythroderma; ichthyosis; therapy-systemic.

Publication types

Case Reports

MeSH terms

Dermatologic Agents / therapeutic use*
Homozygote
Humans
Ichthyosis, Lamellar / drug therapy*
Ichthyosis, Lamellar / genetics*
Infant
Male
Mutation, Missense
Receptors, Cell Surface / genetics*
Ustekinumab / therapeutic use*

Substances

Dermatologic Agents
NIPAL4 protein, human
Receptors, Cell Surface
Ustekinumab