Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab-Reference-Cited by-同舟云学术

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

Published:2019-09-18 Issue:6 Volume:36 Page:1002-1003
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Poulton Cathryn¹²^ORCID,Gration Dylan¹³,Murray Kevin⁴,Baynam Gareth¹³⁵,Halbert Anne⁶

Affiliation:

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

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.13995

Reference5 articles.

1. Autosomal Recessive Congenital Ichthyosis

2. Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis

3. Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4

4. An IL-17–dominant immune profile is shared across the major orphan forms of ichthyosis

5. The spectrum of manifestations in desmoplakin gene (DSP) spectrin repeat 6 domain mutations: immunophenotyping and response to ustekinumab;Paller AS;J Am Acad Dermatol,2018

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1. Treatment of autosomal recessive congenital ichthyosis caused by a NIPAL4 variant with upadacitinib;Journal of the European Academy of Dermatology and Venereology;2024-05-29

2. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19

3. Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients;Dermatology;2024

4. Biologics for inherited disorders of keratinisation: A systematic review;Australasian Journal of Dermatology;2023-12-21

5. Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs;Frontiers in Pharmacology;2023-11-09