title: Epidermolytic Ichthyosis Sine Epidermolysis.
abstract: Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required to correctly direct the molecular analysis. EI is characterized by hyperkeratosis and vacuolar degeneration of the upper epidermis, also known as epidermolytic hyperkeratosis, hence the name of the disease. In the current report, the authors describe members of 2 families presenting with clinical features consistent with EI. The patients were shown to carry classical mutations in KRT1 or KRT10, but did not display epidermolytic changes on histology. These observations underscore the need to remain aware of the limitations of pathological features when considering a diagnosis of EI.
authors.affiliation: *Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; †Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; ‡Department of Dermatology, Kirov State Medical Academy, Kirov, Russia; §Department of Pathology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; ¶Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; ‖INSERM UMR 1163, Imagine Institute, University Paris Descartes Sorbonne Cité, Paris, France; **Department of Genetics, Necker hospital for sick children, APHP, Paris, France; ††Department of Dermatology and Allergology, Ludwig-Maximilian-University, Munich, Germany; and Departments of ‡‡Pathology, §§Dermatology, and ¶¶Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL.
authors.forename: Marina
authors.initials: M
authors.lastname: Eskin-Schwartz
authors.forename: Marianna
authors.initials: M
authors.lastname: Drozhdina
authors.forename: Ofer
authors.initials: O
authors.lastname: Sarig
authors.forename: Andrea
authors.initials: A
authors.lastname: Gat
authors.forename: Tomer
authors.initials: T
authors.lastname: Jackman
authors.forename: Ofer
authors.initials: O
authors.lastname: Isakov
authors.forename: Noam
authors.initials: N
authors.lastname: Shomron
authors.forename: Liat
authors.initials: L
authors.lastname: Samuelov
authors.forename: Natalia
authors.initials: N
authors.lastname: Malchin
authors.forename: Alon
authors.initials: A
authors.lastname: Peled
authors.forename: Dan
authors.initials: D
authors.lastname: Vodo
authors.forename: Alain
authors.initials: A
authors.lastname: Hovnanian
authors.forename: Thomas
authors.initials: T
authors.lastname: Ruzicka
authors.forename: Sergei
authors.initials: S
authors.lastname: Koshkin
authors.forename: Robert M
authors.initials: RM
authors.lastname: Harmon
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Koetsier
authors.forename: Kathleen J
authors.initials: KJ
authors.lastname: Green
authors.forename: Amy S
authors.initials: AS
authors.lastname: Paller
authors.forename: Eli
authors.initials: E
authors.lastname: Sprecher
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics / Q000473:pathology*; D007150:Immunohistochemistry; D053556:Keratin-1 / Q000235:genetics; D053550:Keratin-10 / Q000235:genetics; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D012867:Skin / Q000737:chemistry / Q000473:pathology*
chemical_list: D005819:Genetic Markers; C491616:KRT1 protein, human; C507493:KRT10 protein, human; D053556:Keratin-1; D053550:Keratin-10