Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab.
arthropathy
erythroderma
ichthyosis
therapy-systemic
Journal
Pediatric dermatology
ISSN: 1525-1470
Titre abrégé: Pediatr Dermatol
Pays: United States
ID NLM: 8406799
Informations de publication
Date de publication:
Nov 2019
Nov 2019
Historique:
pubmed:
19
9
2019
medline:
6
5
2020
entrez:
19
9
2019
Statut:
ppublish
Résumé
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.
Substances chimiques
Dermatologic Agents
0
NIPAL4 protein, human
0
Receptors, Cell Surface
0
Ustekinumab
FU77B4U5Z0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1002-1003Informations de copyright
© 2019 Wiley Periodicals, Inc.
Références
Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009;129:1319-1321.
Li H, Vahlquist A, Törmä H. Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis. J Dermatol Sci. 2013;69:195-201.
Alavi A, Shahshahani MM, Klotzle B, Fan J-B, Ronaghi M, Elahi E. Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4. J Dermatol. 2012;39:375-381.
Paller AS, Renert-Yuval Y, Suprun M, et al. An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis. J Allergy Clin Immunol. 2017;139:152-165.
Paller AS, Czarnowicki T, Renert-Yuval Y, et al. The spectrum of manifestations in desmoplakin gene (DSP) spectrin repeat 6 domain mutations: immunophenotyping and response to ustekinumab. J Am Acad Dermatol. 2018;78(498-505):e2.