Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma
DOI:
https://doi.org/10.2340/actadv.v105.42502Keywords:
autosomal recessive congenital ichthyosis, palmoplantar keratoderma, ABCA12, genetic variant, molecular genetic diagnosticsDownloads
References
Gutiérrez-Cerrajero C, Sprecher E, Paller AS, Akiyama M, Mazereeuw-Hautier J, Hernández-Martín A, et al. Ichthyosis. Nat Rev Dis Primers 2023; 9: 1-23.
https://doi.org/10.1038/s41572-022-00412-3 DOI: https://doi.org/10.1038/s41572-022-00412-3
Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa. Hum Mutat 2010; 31: 1090–1096.
https://doi.org/10.1002/humu.21326 DOI: https://doi.org/10.1002/humu.21326
Guerra L, Castori M, Didona B, Castiglia D, Zambruno G. Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features. J Eur Acad Dermatol Venereol 2018; 32: 704–719.
https://doi.org/10.1111/jdv.14902 DOI: https://doi.org/10.1111/jdv.14902
Thomas B, O’Toole E. Diagnosis and management of inherited palmoplantar keratodermas. Acta Derm Venerol 2020; 100: adv00094.
https://doi.org/10.2340/00015555-3430 DOI: https://doi.org/10.2340/00015555-3430
Esperón-Moldes U, Ginarte M, Rodríguez-Pazos L, Fachal L, Pozo T, Aguilar JL, et al. ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications. J Dermatol Sci 2018; 91: 328–331.
https://doi.org/10.1016/j.jdermsci.2018.05.012 DOI: https://doi.org/10.1016/j.jdermsci.2018.05.012
Richard G. Molecular genetics of the ichthyoses. Am J Med Genet C Semin Med Genet 2004; 131C: 32–44.
https://doi.org/10.1002/ajmg.c.30032 DOI: https://doi.org/10.1002/ajmg.c.30032
Sakai K, Akiyama M, Sugiyama-Nakagiri Y, McMillan JR, Sawamura D, Shimizu H. Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes. Exp Dermatol 2007; 16: 920–926.
https://doi.org/10.1111/j.1600-0625.2007.00614.x DOI: https://doi.org/10.1111/j.1600-0625.2007.00614.x
Terrinoni A, Sala G, Bruno E, Pitolli C, Minieri M, Pieri M, et al. Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP). IJMS 2023; 24: 13962.
https://doi.org/10.3390/ijms241813962 DOI: https://doi.org/10.3390/ijms241813962
Published
How to Cite
Issue
Section
Categories
License
Copyright (c) 2025 Pauline Bernard, Nuria Pell, Juliette Mazereeuw-Hautier, Nathalie Jonca
![Creative Commons License](http://i.creativecommons.org/l/by-nc/4.0/88x31.png)
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
All digitalized ActaDV contents is available freely online. The Society for Publication of Acta Dermato-Venereologica owns the copyright for all material published until volume 88 (2008) and as from volume 89 (2009) the journal has been published fully Open Access, meaning the authors retain copyright to their work.
Unless otherwise specified, all Open Access articles are published under CC-BY-NC licences, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material for non-commercial purposes, provided proper attribution to the original work.