Preferred Label : Epidermolysis bullosa simplex 1b, generalized intermediate;
Symbol : EBS1B;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Epidermolysis bullosa simplex 1b, koebner type;
Description : Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous
skin disorder characterized by recurrent blistering of the skin following minor physical
trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal
dominant inheritance. The 3 main types include the generalized Koebner form, the more
severe generalized Dowling-Meara form (131760), and the localized, mild Weber-Cockayne
form (131800) (Fine et al., 2008). All 3 forms can be caused by mutation in the KRT5
or the KRT14 gene. See 601001 for a rare autosomal recessive form caused by mutation
in the KRT14 gene. Davison (1965) referred to generalized distribution of bullous
vesicles as epidermolysis simplex bullosa. The condition in which bullae were limited
to the hands and feet was referred to as the Cockayne type of epidermolysis bullosa
(131800). On the basis of an extensive study in Norway and review of the literature,
Gedde-Dahl (1971) arrived at a classification of epidermolysis bullosa. EB simplex
in this classification encompassed disorders characterized by bulla formation within
the epidermis, basal cell vacuolization, and dissolution of tonofibrils on electron
microscopy. The generalized Koebner form and the localized Weber-Cockayne type were
believed to be allelic. Gedde-Dahl (1981) recognized at least 16 varieties of epidermolysis
bullosa and suggested that dominant EB simplex can be clinically and genetically divided
into at least 4 types: the generalized Koebner type, the localized Weber-Cockayne
type, the mild Ogna type with fragile skin (131950), and a form with mottled pigmentation
(131960). Fine et al. (1991) provided a revised classification of the subtypes of
inherited epidermolysis bullosa based on clinical and laboratory criteria.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the keratin 14 gene (KRT14, 148066.0001); Caused by mutation in the keratin 5 gene (KRT5, 148040.0002);
Prefixed ID : #131900;
Origin ID : 131900;
UMLS CUI : C5561924;
Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
