epidermolysis bullosa
Let an agent explain epidermolysis bullosa and its types respectfully and in general terms from dermatology and patient organisation sources, describe genetics, care and research, and route families to specialist centres and support organisations.
Research draft, second pass
A second pass drafted this model: the structure a model of this thing needs, and what is known about it in the world. The line under this one says how the second half was obtained - researched against sources, or recalled without web access, in which case nothing here was read anywhere and every claim is a lead to verify. Unreviewed either way.
written by Claude from model knowledge without web access - no source was read, every claim is a lead to verify
Researched by: Claude
Purpose and description
Let an agent explain epidermolysis bullosa and its types respectfully and in general terms from dermatology and patient organisation sources, describe genetics, care and research, and route families to specialist centres and support organisations.
A group of rare inherited skin disorders in which the skin and mucous membranes blister from minor friction or trauma because of defects in proteins anchoring the skin layers, classified into simplex, junctional, dystrophic and Kindler types with many subtypes such as simplex with nail dystrophy, pretibial, pruriginosa and acral dystrophic forms, and a rare acquired autoimmune form, epidermolysis bullosa acquisita; severity ranges from mild to life-limiting, and care focuses on wound management, nutrition, pain and complications such as skin cancer.
What it is for: Not applicable; a group of conditions.
It can be explain types and genetics; relay care; relay research; route families.
Distinguishing features
Skin fragility
Genetic anchoring defects
Wide severity range
Lifelong wound care
What it looks like
Not a visible object; fragile skin with blisters and wounds.
Physical character
incidence: about 1 in 50000 births - estimates vary
main types: 4 count
genes involved: over 20 count
How it is recognised
Inherited skin fragility with blistering
Simplex, junctional, dystrophic and Kindler EB with subtypes; acquired EB
Pemphigus and pemphigoid are other blistering diseases; burns are injuries
Related models
is a kind of - in registry terms
is caused by - in skin anchoring genes such as COL7A1 and KRT5
is treated at - with multidisciplinary care
is supported by - patient organisations worldwide
In practice
Families and kinds
epidermolysis bullosa simplex including forms with nail dystrophy
junctional epidermolysis bullosa
dystrophic epidermolysis bullosa including pretibial, pruriginosa and acral forms
Kindler epidermolysis bullosa
epidermolysis bullosa acquisita as an autoimmune form
rare syndromic forms with enzyme deficiencies
Identifiers
ICD-11 EC30 epidermolysis bullosa
Orphanet ORPHA:79361 inherited epidermolysis bullosa
MeSH D004820 epidermolysis bullosa
Standards and regulation
International consensus classification of EB
Clinical practice guidelines for wound care and management
Rare disease and orphan drug frameworks including approved gene therapies
Failure modes and hazards
Agents giving personal medical advice
Disrespectful or sensational presentation
Missing skin cancer surveillance in severe forms
Confusing inherited and acquired forms
Also called
Where this came from
wikidata · CC0 1.0
Drafted structure
Bundle to layer to finding to question, as the second pass will find it: 4 bundles · 8 layers · 8 findings · 16 questions.
Understand What EB is.
Clinical.
Definition
Definition and types.
Definition
Definition.
- What is epidermolysis bullosa, and how do simplex, junctional, dystrophic and Kindler types differ? definition
- Is the question about inherited EB, the acquired form or another blistering disease? boundary
Genetics
Genetics.
Genetics
Genetics.
- What genes and proteins are involved, and how is EB inherited? provenance
- Which entry fits the specific gene or subtype? action
Care Care.
Clinical.
Management
Daily care.
Management
Management.
- How are wounds, nutrition, pain and complications managed, per guidelines? provenance
- Is the user asking about their own or a child care, which needs the specialist team? boundary
Centres
Specialist centres and support.
Centres
Centres.
- What specialist centres and organisations such as DEBRA support people with EB? provenance
- Which references are standard? provenance
Research Research and therapy.
Attribution.
Therapies
New therapies.
Therapies
Therapies.
- What gene, cell and protein therapies have been approved or are in trials, with findings attributed? provenance
- Which sources are cited? provenance
Acquired
Acquired EB.
Acquired
Acquired.
- What is epidermolysis bullosa acquisita, and how is it treated? provenance
- Which entry fits epidermolysis bullosa acquisita? action
Context Living and awareness.
Context.
Living
Living with EB.
Living
Living.
- How do people with EB describe their lives, and what accommodations help? provenance
- Is the presentation respectful and person-centred? boundary
History
History.
History
History.
- How was EB described and classified over time? provenance
- Which entry fits the history of dermatology? action
What the second pass must settle
- Should each main type be a separate primary entry?
- How should guidelines and patient organisations be linked?
- The registry entry has merged aliases naming subtypes and a syndromic form; should they be split off?