Orphanet: Autosomal recessive generalized epidermolysis bullosa simplex

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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: Disorder

Synonym(s):
- Autosomal recessive generalized EBS
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: Q81.0
ICD-11: EC30
OMIM: 601001 619599
UMLS: C5680184
MeSH: -
GARD: -
MedDRA: -

A 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

produced/endorsed by ERN(s) FSMR

produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Eurordis directory

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.