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Autosomal recessive generalized epidermolysis bullosa simplex
Disease definition
A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation.
ORPHA:89838
Classification level: DisorderA summary on this disease is available in Deutsch (2012) Italiano (2012) Español (2021) Français (2021) Nederlands (2021)
Detailed information
General public
- Article for general public
- Français (2012, pdf) - Orphanet
- Svenska (2017) - Socialstyrelsen
- English (2022, pdf) - Bambino Gesù Children’s Hospital
- Italiano (2022, pdf) - Bambino Gesù Children’s Hospital
Guidelines
- Emergency guidelines
- Français (2012, pdf) - Orphanet Urgences
- Clinical practice guidelines
- English (2012) - Int J Paediatr Dent
- English (2014) - Orphanet J Rare Dis
- English (2014) - BMC Med
- Français (2015) - PNDS
- English (2016) - Br J Dermatol
- English (2017, pdf) - Wounds International
- Español (2017, pdf) - Wounds International
- English (2019, pdf) - Debra International
- English (2019, pdf) - Debra International
- English (2019) - Orphanet J Rare Dis
- English (2019) - Orphanet J Rare Dis
- English (2020) - Br J Dermatol
- English (2020) - Br J Dermatol
- English (2020) - Orphanet J Rare Dis
Disability
- Disability factsheet
- Français (2013, pdf) - Orphanet
- Español (2018, pdf) - Orphanet


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.