Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations
| Autor: | Paola Fortugno, Cristina Pedicelli, Liliana Guerra, Valentina Calabresi, Angelo Giuseppe Condorelli, Giovanni Di Zenzo, Daniele Castiglia |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Adult
Epidermolysis bullosa acquisita Pathology medicine.medical_specialty Collagen Type VII Biopsy DNA Mutational Analysis Mutation Missense Fluorescent Antibody Technique Dermatology Epidermolysis Bullosa Acquisita Compound heterozygosity 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Microscopy Electron Transmission Protein Domains Antigen lcsh:Dermatology Humans Medicine Missense mutation Genetic Predisposition to Disease skin and connective tissue diseases Autoantibodies Skin integumentary system medicine.diagnostic_test biology business.industry Autoantibody General Medicine lcsh:RL1-803 medicine.disease Epidermolysis Bullosa Dystrophica dystrophicepidermolysisbullosa Phenotype Nails 030220 oncology & carcinogenesis biology.protein Female Epidermolysis bullosa typeVIIcollagen Antibody business |
| Zdroj: | Acta Dermato-Venereologica, Vol 98, Iss 4, Pp 411-415 (2018) |
| ISSN: | 0001-5555 |
| DOI: | 10.2340/00015555-2851 |
| Popis: | Circulating anti-type VII collagen autoantibodies are frequently detected in patients with recessive dystrophic epidermolysis bullosa (RDEB). However, evidence supporting their pathogenic role in inducing epidermolysis bullosa acquisita (EBA) has been provided for only one individual with dominant dystrophic epidermolysis bullosa (DDEB). We describe here a patient who presented with dystrophic toenails since early childhood and developed trauma-induced skin blisters and oral erosions at age 26 years. Direct immunofluorescence showed IgG deposits with a u-serrated pattern along the cutaneous basement membrane zone, while no change in the expression of collagen VII could be detected by antigen mapping. High-titre anti-collagen VII antibodies were detected by enzyme-linked immunoassay (ELISA). In parallel, sequencing of epidermolysis bullosa (EB) genes identified compound heterozygous COL7A1 missense c.410G>A (p.Arg137Gln) and splicing c.3674C>T (p.Ala1225_Gln1241del) mutations, previously unrecognized in dystrophic epidermolysis bullosa (DEB). Thus, our patient had RDEB “nails-only” and developed mechanobullous EBA in adulthood. These data support a pathogenic role of circulating autoantibodies to collagen VII in inducing EBA in selected patients with DEB. Unforeseen worsening of skin symptoms in DEB should prompt laboratory investigations for EBA. |
| Databáze: | OpenAIRE |
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