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Localized dystrophic epidermolysis bullosa, acral form

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Disease definition

A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement.

ORPHA:158673

Classification level: Subtype of disorder

Synonym(s):
  • Localized DEB, acral form

Prevalence: <1 / 1 000 000

Inheritance: Autosomal dominant, Autosomal recessive

Age of onset: Infancy, Neonatal

ICD-10: Q81.2

ICD-11: EC32

UMLS: C4518087

A summary on this disease is available in Français, Español, Deutsch, Italiano, Português, Nederlands Polski
Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

General public
Article for general public
Svenska (2024) - Socialstyrelsen
Guidelines
Emergency guidelines
Français (2012.pdf) - Orphanet Urgences
Anesthesia guidelines
English (2020) - Orphananesthesia
Čeština (2020) - Orphananesthesia
Clinical practice guidelines
English (2020) - Orphanet J Rare Dis Logo ERN
English (2017.pdf) - Wounds International
Español (2017.pdf) - Wounds International
Disease review articles
Clinical genetics review
English (2025) - GeneReviews
Disability
Disability factsheet
Español (2018.pdf) - Orphanet
The documents contained in this website 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.