Localized variant of junctional epidermolysis bullosa with R795X mutation

Stefano Bighetti; Luca Bettolini; Sara Rovaris; Antonio Novelli; Paolo Incardona; Piergiacomo Calzavara-Pinton; Simone Caravello; Vincenzo Maione

doi:10.4081/dr.2025.10127

Authors

Stefano Bighetti
s.bighetti@unibs.it
Dermatology Department, University of Brescia, ASST Spedali Civili di Brescia, Italy. https://orcid.org/0009-0006-2781-6909
Luca Bettolini Dermatology Department, University of Brescia, ASST Spedali Civili di Brescia, Italy. https://orcid.org/0000-0003-4374-802X
Sara Rovaris Dermatology Department, University of Brescia, ASST Spedali Civili di Brescia, Italy. https://orcid.org/0000-0001-5454-4220
Antonio Novelli Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, Rome, Italy.
Paolo Incardona Pathology Department, University of Brescia, ASST Spedali Civili di Brescia, Italy.
Piergiacomo Calzavara-Pinton Dermatology Department, University of Brescia, ASST Spedali Civili di Brescia, Italy. https://orcid.org/0000-0002-0935-7204
Simone Caravello Dermatology Department, Ospedale di Circolo e Fondazione Macchi, ASST Sette Laghi, Varese, Italy.
Vincenzo Maione Dermatology Department, University of Brescia, ASST Spedali Civili di Brescia, Italy. https://orcid.org/0000-0002-0420-5009

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.

Bardhan A, Bruckner-Tuderman L, Chapple ILC, et al. Epidermolysis bullosa. Nat Rev Dis Primers 2020;6:78. DOI: https://doi.org/10.1038/s41572-020-0210-0

Pfendner EG, Lucky AW. Junctional Epidermolysis Bullosa. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2008.

Ruzzi L, Pas H, Posteraro P, et al. A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa. J Invest Dermatol 2001;116:182-7. DOI: https://doi.org/10.1046/j.1523-1747.2001.00229.x

Mazzanti C, Gobello T, Posteraro P, et al. 180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype. Br J Dermatol 1998;138:859-66. DOI: https://doi.org/10.1046/j.1365-2133.1998.02226.x

Bighetti, S., Bettolini, L., Rovaris, S., Novelli, A., Incardona, P., Calzavara-Pinton, P., Caravello, S., & Maione, V. (2025). Localized variant of junctional epidermolysis bullosa with R795X mutation. Dermatology Reports. https://doi.org/10.4081/dr.2025.10127