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: 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
• Journal: The American Journal of dermatopathology (Am J Dermatopathol) Vol. 39 Issue 6 Pg. 440-444 (Jun 2017) ISSN: 1533-0311 [Electronic] United States
• PMID: 28121638 (Publication Type: Case Reports, Journal Article)

Chemical References

• Genetic Markers
• KRT1 protein, human
• KRT10 protein, human
• Keratin-1
• Keratin-10

Topics

• Biopsy
• Child, Preschool
• DNA Mutational Analysis
• Genetic Markers
• Genetic Predisposition to Disease
• Heredity
• Humans
• Hyperkeratosis, Epidermolytic (genetics, pathology)
• Immunohistochemistry
• Keratin-1 (genetics)
• Keratin-10 (genetics)
• Male
• Mutation
• Pedigree
• Phenotype
• Predictive Value of Tests
• Skin (chemistry, pathology)