Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma

Authors

  • Pauline Bernard Reference Center for Rare Skin Diseases, Dermatology Department, CHU Larrey, Université Paul Sabatier, Toulouse, France
  • Nuria Pell Infinity, University of Toulouse, CNRS, Inserm, UPS, Toulouse, France; CHU Toulouse, Purpan hospital, laboratory of cell biology and cytology, Federal Institute of Biology, Toulouse, France
  • Juliette Mazereeuw-Hautier Reference Center for Rare Skin Diseases, Dermatology Department, CHU Larrey, Université Paul Sabatier, Toulouse, France; Infinity, University of Toulouse, CNRS, Inserm, UPS, Toulouse, France
  • Nathalie Jonca Infinity, University of Toulouse, CNRS, Inserm, UPS, Toulouse, France; CHU Toulouse, Purpan hospital, laboratory of cell biology and cytology, Federal Institute of Biology, Toulouse, France

DOI:

https://doi.org/10.2340/actadv.v105.42502

Keywords:

autosomal recessive congenital ichthyosis, palmoplantar keratoderma, ABCA12, genetic variant, molecular genetic diagnostics

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References

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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.

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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

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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

2025-01-03

How to Cite

Bernard, P., Pell, N., Mazereeuw-Hautier, J., & Jonca, N. (2025). Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma. Acta Dermato-Venereologica, 105, adv42502. https://doi.org/10.2340/actadv.v105.42502