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

Acta dermato-venereologica - 16 Feb 2021

Jägle Sabine, Juratli Hazem A, Hickman Geoffroy, Süssmuth Kira, Boente Maria C, Kopp Julia, Kirchmeier Peter, Zimmer Andreas, Happle Rudolf, Bourrat Emmanuelle, Hamm Henning, Fischer Judith

Abstract excerpt

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 patho-genetic mechanism for the development of the lesions. However, the molecular mechanism leading to...

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PMID: 33491095
DOI: 10.2340/00015555-3753
PMCID: PMC9366687

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