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Start free with EleplanLocalized dystrophic epidermolysis bullosa, acral form
ORPHA:158673Clinical subtype
Also called Localized DEB, acral form
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive
- Classified as
- Clinical subtype
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
17- Abnormal blistering of the skin
- Abnormality of the lower limb
- Acral blistering
- Crusting erythematous dermatitis
- Cutaneous photosensitivity
- Dermal atrophy
- Dystrophic fingernails
- Dystrophic toenail
- Erythema
- Erythematous plaque
- Esophageal stricture
- Fragile skin
- Milia
- Palmoplantar hyperkeratosis
- Poikiloderma
- Telangiectasia
- Thin skin
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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