Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero­zygosity in Affected Skin

Authors

  • Sabine Jägle
  • Hazem A. Juratli
  • Geoffroy Hickman
  • Kira Süßmuth
  • Maria C. Boente
  • Julia Kopp
  • Peter Kirchmeier
  • Andreas Zimmer
  • Rudolf Happle
  • Emmanuelle Bourrat
  • Henning Hamm
  • Judith Fischer Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, DE-79106 Freiburg, Germany

DOI:

https://doi.org/10.2340/00015555-3753

Keywords:

mevalonate diphosphate decarboxylase gene, porokeratosis plantaris, palmaris et disseminata, linear porokeratosis, mosaicism, second hit, loss of heterozygosity

Abstract

Porokeratoses are a heterogeneous group of keratinization disorders. For linear porokeratosis and disseminated superficial actinic porokeratosis, a heterozygous pathogenic germline variant in a mevalonate pathway gene and a postzygotic second hit mutation present in affected skin have been shown to be the patho­genetic mechanism for the development of the lesions. However, the molecular mechanism leading to development of porokeratosis plantaris, palmaris et disseminata is not known. This study analysed a cohort of 4 patients with linear porokeratosis and 3 patients with porokeratosis plantaris, palmaris et disseminata, and performed mutation analyses of DNA extracted from blood samples and skin biopsies. All of the study patients carried the heterozygous germline variant c.70+5G>A in the MVD gene. Loss of heterozygosity due to a second hit mutation was found in affected skin of 3 patients with linear porokeratosis and 2 patients with porokeratosis plantaris, palmaris et disseminata. These results suggest that porokeratosis plantaris, palmaris et disseminata shares the same pathogenetic mechanism as other porokeratosis subtypes and belongs to the phenotypic spectrum of MVD-associated porokeratosis.

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Published

2021-02-16

How to Cite

Jägle, S., Juratli, H. A., Hickman, G., Süßmuth, K., Boente, M. C., Kopp, . J., … Fischer, J. (2021). Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero­zygosity in Affected Skin. Acta Dermato-Venereologica, 101(2), adv00397. https://doi.org/10.2340/00015555-3753