Autosomal recessive generalized epidermolysis bullosa simplex

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Synonyms: Autosomal recessive generalized EBS

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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