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Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.
ORPHA:79399Classification level: Disorder
- Autosomal dominant generalized EBS, intermediate form
- Epidermolysis bullosa simplex, Koebner type
- Epidermolysis bullosa simplex, Köbner type
- Prevalence: Unknown
- Inheritance: Autosomal dominant or Not applicable
- Age of onset: Infancy, Neonatal
- ICD-10: Q81.0
- OMIM: 131900
- UMLS: C0079299
- MeSH: C535961
- GARD: 2147
- MedDRA: -
Worldwide prevalence is unknown but in Scotland reported overall prevalence of non-Dowling-Meara generalized EBS and localized EBS is 1/35,000.
Onset of the disease is usually at birth. Blistering tendency usually worsens in summertime (or in warm weather). The frequency of milia, mild atrophic scarring, focal plantar hyperkeratosis and nail dystrophy is intermediate between that of localized EBS and EBS-DM (see these terms), and extracutaneous findings, other than occasional intraoral blistering, are rare. Given the considerable overlap between non-Dowling-Meara EBS and localized EBS within some kindreds, some experts prefer to group both subtypes together.
Non-Dowling-Meara EBS is caused by dominant negative mutations within either the KRT5 (12q13.13) or KRT14 (17q12-q21) genes, encoding keratin 5 and keratin 14, respectively.
Transmission is autosomal dominant and sporadic cases are frequent.
Although the disease can be severely disabling, life-expectancy is normal.
A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012) Português (2012)
- Article for general public
- Français (2012, pdf) - Orphanet
- Svenska (2017) - Socialstyrelsen
- Emergency guidelines
- Français (2012, pdf) - Orphanet Urgences
- Clinical practice guidelines
- Français (2015) - PNDS
- English (2017, pdf) - Wounds International
- Español (2017, pdf) - Wounds International
Disease review articles
- Clinical genetics review
- English (2022) - GeneReviews
- Disability factsheet
- Français (2013, pdf) - Orphanet
- Español (2018, pdf) - Orphanet
: produced/endorsed by FSMR(s)