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Epidermolytic Ichthyosis Sine Epidermolysis
- Source :
- The American Journal of Dermatopathology. 39:440-444
- Publication Year :
- 2017
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2017.
-
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.
- 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
Subjects
Details
- ISSN :
- 01931091
- Volume :
- 39
- Database :
- OpenAIRE
- Journal :
- The American Journal of Dermatopathology
- Accession number :
- edsair.doi.dedup.....9e19ef6f639d35712a125c9254255250