Epidermolytic Ichthyosis Sine Epidermolysis

Eskin-Schwartz, Marina; Drozhdina, Marianna; Sarig, Ofer; Gat, Andrea; Jackman, Tomer; Isakov, Ofer; Shomron, Noam; Samuelov, Liat; Malchin, Natalia; Peled, Alon; Vodo, Dan; Hovnanian, Alain; Ruzicka, Thomas; Koshkin, Sergei; Harmon, Robert M.; Koetsier, Jennifer L.; Green, Kathleen J.; Paller, Amy S. and Sprecher, Eli (2017): Epidermolytic Ichthyosis Sine Epidermolysis. In: American Journal of Dermatopathology, Vol. 39, No. 6: pp. 440-444

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.

• Item Type: Journal article
• Faculties: Medicine
• Subjects: 600 Technology > 610 Medicine and health
• ISSN: 0193-1091
• Alliance/National Licence: This publication is with permission of the rights owner freely accessible due to an Alliance licence and a national licence (funded by the DFG, German Research Foundation) respectively.
• Language: English