Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Heterozygosity in Affected Skin
| Autor: | María del Carmen Boente, Judith Fischer, Sabine Jägle, Emmanuelle Bourrat, Julia Kopp, Henning Hamm, Peter Kirchmeier, Geoffroy Hickman, Andreas Zimmer, Hazem A. Juratli, Rudolf Happle, Kira Süssmuth |
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| Rok vydání: | 2021 |
| Předmět: |
Pathology
medicine.medical_specialty DNA Mutational Analysis Dermatology Disseminated superficial actinic porokeratosis medicine.disease_cause Germline Loss of heterozygosity Keratin second hit Humans Medicine Sex organ Genitalia Skin chemistry.chemical_classification Mutation linear porokeratosis mevalonate diphosphate decarboxylase gene business.industry General Medicine medicine.disease porokeratosis plantaris palmaris et disseminata Zygosity Porokeratosis mosaicism chemistry RL1-803 loss of heterozygosity business |
| Zdroj: | Acta Dermato-Venereologica, Vol 101, Iss 2, p adv00397 (2021) |
| ISSN: | 1651-2057 |
| DOI: | 10.2340/00015555-3753 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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