Dystrophic epidermolysis bullosa…

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Dystrophic epidermolysis bullosa pruriginosa

ORPHA:89843Disease

Also called DEB pruriginosa · DEB-Pr · Pruriginous dystrophic epidermolysis bullosa

What it is

A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.

Key facts

Age of onset
Childhood
Inheritance
Autosomal dominant, 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

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

COL7A1Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

Q81.2filed under a broader ICD-10 category — shared with 10 other rare diseases

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

MESH C563192MONDO 0011398OMIM 604129UMLS C1275114

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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