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Localized dystrophic epidermolysis bullosa, nails only

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Disease definition

A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed.

ORPHA:158676

Classification level: Subtype of disorder

Synonym(s):
  • Localized DEB, nails only

Prevalence: <1 / 1 000 000

Inheritance: Autosomal dominant, Autosomal recessive

Age of onset: Infancy, Neonatal

ICD-10: Q81.2

ICD-11: EC32

OMIM: 607523

UMLS: C4302547

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.