- Authors:
- Marina Eskin-Schwartz,
- Marianna Drozhdina,
- Ofer Sarig,
- Andrea Gat,
- Tomer Jackman,
- Ofer Isakov,
- Noam Shomron,
- Liat Samuelov,
- Natalia Malchin,
- Alon Peled,
- Dan Vodo,
- Alain Hovnanian,
- Thomas Ruzicka,
- Sergei Koshkin,
- Robert M Harmon,
- Jennifer L Koetsier,
- Kathleen J Green,
- Amy S Paller,
- Eli Sprecher
Am J Dermatopathol 2017 Jun;39(6):440-444
*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.
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.
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