Epidermolysis Bullosa Simplex in Israel
Open Access
- 1 April 2003
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Dermatology
- Vol. 139 (4) , 498-505
- https://doi.org/10.1001/archderm.139.4.498
Abstract
EPIDERMOLYSIS BULLOSA (EB) encompasses a heterogeneous group of hereditary disorders characterized by blistering of the skin upon exposure to mechanical stress. Although the most obvious signs of the disease are vesicles and bullae within the skin and mucous membranes, internal organs may also be involved.1 Traditionally, EB is classified in 3 major groups according to the level of dermoepidermal separation at the basement membrane (BM) zone. Epidermolysis bullosa simplex (EBS) results from separation of the skin above the BM as a result of basal keratinocyte cytolysis; junctional EB is caused by blister formation within the BM above the lamina densa, whereas in dystrophic EB, blisters develop below the BM.1,2Keywords
This publication has 37 references indexed in Scilit:
- Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier FrequencyJournal of Investigative Dermatology, 2000
- Genomic Organization and Amplification of the Human Epidermal Type II Keratin Genes K1 and K5Biochemical and Biophysical Research Communications, 2000
- Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosaJournal of the American Academy of Dermatology, 2000
- Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlationBritish Journal of Dermatology, 1999
- Immunohistopathologic Diagnosis of Epidermolysis BullosaThe American Journal of Dermatopathology, 1999
- Kindler syndrome: absence of definite ultrastructural feature.Journal of the American Academy of Dermatology, 1999
- Mutation analysis and molecular genetics of epidermolysis bullosaMatrix Biology, 1999
- Novel K5 and K14 Mutations in German Patients with the Weber–Cockayne Variant of Epidermolysis Bullosa SimplexJournal of Investigative Dermatology, 1998
- Keratin 14 Gene Mutations in Patients with Epidermolysis Bullosa SimplexJournal of Investigative Dermatology, 1995
- Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analysesCell, 1991