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Localized dystrophic epidermolysis bullosa, acral form
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 or Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q81.2
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Article for general public
Professionals
- Summary information
- Polski (2013, pdf)
- Emergency guidelines
- Français (2012, pdf)
- Anesthesia guidelines
- Czech (2020)
- English (2020)
- Clinical practice guidelines
- Français (2015)
- English (2017, pdf)
- Español (2017, pdf)
- Clinical genetics review
- English (2018)
- Disability factsheet
- Français (2013, pdf)
- Español (2018, pdf)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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.