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Conflicts of interest: None declared.

Epidermolysis bullosa simplex (EBS) is a hereditary skin bullous disease caused by mutations in the keratin 5 (KRT5) or keratin 14 (KRT14) genes. We report a case of EBS with two mutations, both of which were on the reported pathogenic loci.1, 2 One was revealed to be a polymorphism, and the other was considered pathogenic.

Case and methods

An 11‐year‐old Japanese girl visited our department in July 2004. She had been suffering from blistering on her feet and body that repeatedly appeared as having been rubbed with shoes, underwear or adhesive tape during the summer since the age of 6 months. These blisters disappeared without any scarring in winter. She was otherwise healthy, and no‐one in her family had a similar complaint. She and her family hoped for a detailed examination of her disease. On physical examination, there were some blisters on her soles and waist (Fig. 1). A skin biopsy was taken from a blister on her waist. The histopathological examination showed subepidermal and intraepidermal bullae with degeneration of the basal and suprabasal cells, mild eosinophilic infiltration in the bullae, and perivascular lymphocytic infiltration in the upper dermis. Electron microscopic examination of the sample revealed cytolysis and the degeneration of epidermal cells. We diagnosed this case as EBS (Koebner type) (EBS‐K) and performed DNA analysis after informed consent from her and her family. We extracted genomic DNA from the peripheral blood of the proband, her parents and brother, amplified all exons of KRT5 and KRT14 genes by polymerase chain reaction, and analysed the sequence by direct sequencing according to the reported method.3

Issue Section:
Gene corner
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