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Start free with EleplanAutosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
ORPHA:89842Disease
Also called Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis · Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type · Generalized RDEB, intermediate form · RDEB, non-Hallopeau-Siemens type
What it is
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.
Key facts
- Age of onset
- Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Recorded for the broader condition
- Prevalence
- 1-9 / 1 000 000 (Europe)Dystrophic epidermolysis bullosa
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Very common80–99%
7Common30–79%
21- Abnormal esophagus morphology
- Carious teeth
- Chronic cutaneous wound
- Constipation
- Decreased circulating carnitine concentration
- Decreased serum iron
- Decreased serum zinc
- Dysphagia
- Esophageal stenosis
- Esophageal stricture
- Failure to thrive
- Feeding difficulties
- Gastroesophageal reflux
- Hypoalbuminemia
- Irregular hyperpigmentation
- Low levels of vitamin D
- Malnutrition
- Milia
- Recurrent skin infections
- Skeletal muscle atrophy
- Skin erosion
Sometimes5–29%
17- Absent toenail
- Anal fissure
- Ankyloglossia
- Anonychia
- Anxiety
- Aplasia cutis congenita
- Corneal erosion
- Delayed puberty
and 9 more in this range
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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