Case report: bullous pemphigoid development underlies dystrophic epidermolysis bullosa disease worsening.

ABSTRACT: Autoimmune response to cutaneous basement membrane components superimposed on a genetic skin fragility disease, hereditary epidermolysis bullosa (EB), has been described, but its effects on disease course remain unclear. We report a 69-year-old individual with congenital skin fragility and acral trauma-induced blistering that had suddenly worsened with the onset of severe itch and diffuse spontaneous inflammatory blisters. Next-generation sequencing identified compound heterozygous null and missense COL7A1 mutations, allowing the diagnosis of recessive dystrophic EB. However, the patient's clinical history prompted us to investigate whether he might have developed a pathological autoimmune response against basement membrane components. Tissue-bound and circulating IgG antibodies to

SUBMITTER: Di Zenzo G 

PROVIDER: S-EPMC9374178 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature