Localized variant of junctional epidermolysis bullosa with R795X mutation
Epidermolysis bullosa (EB) refers to a group of inherited disorders characterized by skin and mucous membrane fragility. This report presents the case of a 61-year-old Italian male with a localized variant of junctional epidermolysis bullosa (JEB) linked to the R795X mutation in the COL17A1 gene. Th...
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| Format: | Article |
| Language: | English |
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PAGEPress Publications
2025-01-01
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| Series: | Dermatology Reports |
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| Online Access: | https://www.pagepress.org/journals/dr/article/view/10127 |
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| author | Stefano Bighetti Luca Bettolini Sara Rovaris Antonio Novelli Paolo Incardona Piergiacomo Calzavara-Pinton Simone Caravello Vincenzo Maione |
| author_facet | Stefano Bighetti Luca Bettolini Sara Rovaris Antonio Novelli Paolo Incardona Piergiacomo Calzavara-Pinton Simone Caravello Vincenzo Maione |
| author_sort | Stefano Bighetti |
| collection | DOAJ |
| description | Epidermolysis bullosa (EB) refers to a group of inherited disorders characterized by skin and mucous membrane fragility. This report presents the case of a 61-year-old Italian male with a localized variant of junctional epidermolysis bullosa (JEB) linked to the R795X mutation in the COL17A1 gene. The patient presented with bullous lesions, erosions, scars, and pigmentary changes on the pretibial areas and dystrophic nails. Genetic analysis confirmed the presence of the COL17A1 variant p.Arg795Ter (R795X) mutation, establishing a rare, localized variant of JEB. This case underscores the criticality of early and accurate diagnosis in the management of rare genetic disorders, as misdiagnosis can lead to ineffective treatments.
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| format | Article |
| id | doaj-art-73a0b9c5f7ff491f8eef8e6fbe4d1d0e |
| institution | Kabale University |
| issn | 2036-7392 2036-7406 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Dermatology Reports |
| spelling | doaj-art-73a0b9c5f7ff491f8eef8e6fbe4d1d0e2025-01-09T01:41:33ZengPAGEPress PublicationsDermatology Reports2036-73922036-74062025-01-0110.4081/dr.2025.10127Localized variant of junctional epidermolysis bullosa with R795X mutationStefano Bighetti0Luca Bettolini1Sara Rovaris2Antonio Novelli3Paolo Incardona4Piergiacomo Calzavara-Pinton5Simone Caravello6Vincenzo Maione7Dermatology Department, University of Brescia, ASST Spedali Civili di BresciaDermatology Department, University of Brescia, ASST Spedali Civili di BresciaDermatology Department, University of Brescia, ASST Spedali Civili di BresciaLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, RomePathology Department, University of Brescia, ASST Spedali Civili di BresciaDermatology Department, University of Brescia, ASST Spedali Civili di BresciaDermatology Department, Ospedale di Circolo e Fondazione Macchi, ASST Sette Laghi, VareseDermatology Department, University of Brescia, ASST Spedali Civili di BresciaEpidermolysis bullosa (EB) refers to a group of inherited disorders characterized by skin and mucous membrane fragility. This report presents the case of a 61-year-old Italian male with a localized variant of junctional epidermolysis bullosa (JEB) linked to the R795X mutation in the COL17A1 gene. The patient presented with bullous lesions, erosions, scars, and pigmentary changes on the pretibial areas and dystrophic nails. Genetic analysis confirmed the presence of the COL17A1 variant p.Arg795Ter (R795X) mutation, establishing a rare, localized variant of JEB. This case underscores the criticality of early and accurate diagnosis in the management of rare genetic disorders, as misdiagnosis can lead to ineffective treatments. https://www.pagepress.org/journals/dr/article/view/10127Epidermolysis bullosabullous disease |
| spellingShingle | Stefano Bighetti Luca Bettolini Sara Rovaris Antonio Novelli Paolo Incardona Piergiacomo Calzavara-Pinton Simone Caravello Vincenzo Maione Localized variant of junctional epidermolysis bullosa with R795X mutation Dermatology Reports Epidermolysis bullosa bullous disease |
| title | Localized variant of junctional epidermolysis bullosa with R795X mutation |
| title_full | Localized variant of junctional epidermolysis bullosa with R795X mutation |
| title_fullStr | Localized variant of junctional epidermolysis bullosa with R795X mutation |
| title_full_unstemmed | Localized variant of junctional epidermolysis bullosa with R795X mutation |
| title_short | Localized variant of junctional epidermolysis bullosa with R795X mutation |
| title_sort | localized variant of junctional epidermolysis bullosa with r795x mutation |
| topic | Epidermolysis bullosa bullous disease |
| url | https://www.pagepress.org/journals/dr/article/view/10127 |
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