title: Erythrodermia Congenitalis Ichthyosiformis Bullosa of Brocq.
abstract: A 50-year-old man presented with congenital scaling and hyperkeratosis on his palms, the soles of his feet and the extensor areas of his joints. The flexural areas were unaffected. His maternal grandmother, questionably his maternal uncle, his mother, all three brothers, one of his two sisters as well as two nephews and three nieces have or had similar skin changes. A punch biopsy was taken from the left palm. Clinical and histological signs led to the diagnosis of erythrodermia congenitalis ichthyosiformis bullosa of Brocq. We confirmed this genetically and found a heterozygous duplication (c.1752dupT) in the keratin 1 gene (KRT-1). To our knowledge, this is the first case of this skin condition reported in the literature with a heterozygous duplication (c.1752dupT) in KRT-1.
authors.affiliation: Department of DermatologyCentral Electron Microscopy Lab at the Institute of Pathology, Regensburg, Germany.
authors.forename: Dorothea
authors.initials: D
authors.lastname: Sander
authors.affiliation: Central Electron Microscopy Lab at the Institute of Pathology, Regensburg, Germany.
authors.forename: Josef
authors.initials: J
authors.lastname: Schröder
authors.affiliation: Department of Human Genetics, University Medical Center Regensburg, Regensburg, Germany.
authors.forename: Ines
authors.initials: I
authors.lastname: Schönbuchner
authors.affiliation: Institute for Human Genetics, University of Cologne, Cologne, Germany.
authors.forename: Julia
authors.initials: J
authors.lastname: Schreml
authors.affiliation: Department of DermatologyCentral Electron Microscopy Lab at the Institute of Pathology, Regensburg, Germany.
authors.forename: Sigrid
authors.initials: S
authors.lastname: Karrer
authors.affiliation: Department of DermatologyCentral Electron Microscopy Lab at the Institute of Pathology, Regensburg, Germany.
authors.forename: Mark
authors.initials: M
authors.lastname: Berneburg
authors.affiliation: Department of DermatologyCentral Electron Microscopy Lab at the Institute of Pathology, Regensburg, Germany.
authors.forename: Stephan
authors.initials: S
authors.lastname: Schreml
keywords: Erythroderma; Ichthyosis; Keratin