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Start free with EleplanAutosomal dominant generalized epidermolysis bullosa simplex, severe form
ORPHA:79396Disease
Also called Autosomal dominant generalized EBS, severe form · Epidermolysis bullosa simplex herpetiformis · Epidermolysis bullosa simplex, Dowling-Meara type
What it is
Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
Key facts
- Prevalence
- <1 / 1 000 000 (Europe)
- Age of onset
- Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Disease
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
Very common80–99%
6Common30–79%
15- Alopecia
- Anemia
- Aplasia cutis congenita
- Aplasia cutis congenita on trunk or limbs
- Atrophic scars
- Enamel hypoplasia
- Feeding difficulties
- Gastrostomy tube feeding in infancy
- Generalized reticulate brown pigmentation
- Growth delay
- Hyperpigmentation of the skin
- Milia
- Oral mucosal blisters
- Recurrent skin infections
- Scarring
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.
Genes
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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