1. Epidermolytic Ichthyosis Sine Epidermolysis
- Author
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Liat Samuelov, Amy S. Paller, M. Eskin-Schwartz, Sergei Koshkin, Alain Hovnanian, Ofer Sarig, Kathleen J. Green, Alon Peled, Marianna Drozhdina, Jennifer L. Koetsier, Robert M. Harmon, Eli Sprecher, Dan Vodo, N. Malchin, Noam Shomron, Andrea Gat, Ofer Isakov, Tomer Jackman, and Thomas Ruzicka
- Subjects
Genetic Markers ,Male ,0301 basic medicine ,medicine.medical_specialty ,Heredity ,Biopsy ,DNA Mutational Analysis ,Hyperkeratosis ,Dermatology ,Disease ,medicine.disease_cause ,Epidermolytic hyperkeratosis ,Article ,Pathology and Forensic Medicine ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Predictive Value of Tests ,medicine ,Humans ,Genetic Predisposition to Disease ,Pathological ,Skin ,Hyperkeratosis, Epidermolytic ,Mutation ,medicine.diagnostic_test ,business.industry ,General Medicine ,Keratin-10 ,medicine.disease ,Keratin 1 ,Immunohistochemistry ,Pedigree ,Phenotype ,030104 developmental biology ,Child, Preschool ,Histopathology ,Keratin-1 ,business - 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.
- Published
- 2017