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Localized dystrophic epidermolysis bullosa, pretibial form

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Disease definition

A form of localized dystrophic epidermolysis bullosa characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the anterior lower legs (pretibial areas and feet), the hands and nails. Individual lesions, which tend to be papular or plaque-like, are often violaceous. Pruritus is possible. Healing of blisters is associated with hypertrophic scarring and milia formation. Dystrophy of both fingernails and toenails is characteristic.

ORPHA:79410

Classification level: Subtype of disorder

Synonym(s):
  • DEB-Pt
  • Localized DEB, pretibial form

Prevalence: <1 / 1 000 000

Inheritance: Autosomal dominant, Autosomal recessive

Age of onset: Infancy, Neonatal

ICD-10: Q81.2

ICD-11: EC32

OMIM: 131850

UMLS: C0432321

GARD: 2155

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
Français (2012.pdf) - Orphanet
Svenska (2024) - Socialstyrelsen
Guidelines
Emergency guidelines
Français (2012.pdf) - Orphanet Urgences
Anesthesia guidelines
English (2020) - Orphananesthesia
Čeština (2020) - Orphananesthesia
Clinical practice guidelines
Français (2015) - PNDS Logo FSMR
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
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

Newborn screening

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.