ichthyosis
Let an agent explain ichthyosis and its forms in neutral clinical terms, relay genetics, diagnosis and management in general from dermatology and genetics sources, describe support and research, and route people with symptoms or diagnoses to dermatologists and genetic counsellors.
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 ichthyosis and its forms in neutral clinical terms, relay genetics, diagnosis and management in general from dermatology and genetics sources, describe support and research, and route people with symptoms or diagnoses to dermatologists and genetic counsellors.
A group of skin disorders characterised by dry, thickened, scaling skin resembling fish scales, mostly inherited, from the common and mild ichthyosis vulgaris to rarer forms such as X-linked ichthyosis, lamellar ichthyosis in autosomal recessive and rare autosomal dominant forms, epidermolytic ichthyosis and syndromic forms such as Netherton syndrome, keratosis pilaris atrophicans and rare syndromes named in the registry; acquired ichthyosis can occur with other diseases, and management focuses on emollients, keratolytics and, in severe cases, retinoids.
What it is for: Not applicable; a group of conditions.
It can be explain forms and genetics; relay diagnosis and management; describe support and research; route to specialists.
Distinguishing features
Scaling skin
Mostly inherited
Wide severity range
Barrier dysfunction
What it looks like
Not a visible object as a category; dry, scaling skin of varied severity.
Physical character
ichthyosis vulgaris prevalence: about 1 in 250 people
lamellar ichthyosis prevalence: about 1 in 200000 births
main gene in vulgaris: FLG gene - filaggrin
How it is recognised
Inherited scaling skin disorders
Ichthyosis vulgaris, X-linked, lamellar, epidermolytic and syndromic forms; keratosis pilaris atrophicans; rare named syndromes
Eczema and psoriasis are inflammatory; acquired ichthyosis follows other diseases
Related models
is a kind of - in registry terms
is caused by - mutations in the common form
is treated with - and keratolytics
is contrasted with - an inflammatory scaling disease
In practice
Families and kinds
ichthyosis vulgaris
X-linked ichthyosis
autosomal recessive congenital ichthyosis including lamellar ichthyosis and harlequin ichthyosis
autosomal dominant lamellar ichthyosis
keratinopathic ichthyoses such as epidermolytic ichthyosis
syndromic ichthyoses including Netherton, keratosis pilaris atrophicans and rare syndromes such as those named Koone-Rizzo-Elias and Ruzicka-Goerz-Anton
acquired ichthyosis
Identifiers
ICD-11 EC20 inherited ichthyosis
MeSH D007057 ichthyosis
Orphanet ORPHA:79350 inherited ichthyosis group
Standards and regulation
Dermatology guidelines and the 2009 ichthyosis consensus classification
Genetic testing and counselling standards
Rare disease frameworks
Failure modes and hazards
Agents giving personal medical advice
Confusing ichthyosis with eczema or psoriasis
Stigma and social impact
Also called
Where this came from
wikidata · CC0 1.0
Also registered as vr.tr.ichthyosis
Drafted structure
Bundle to layer to finding to question, as the second pass will find it: 4 bundles · 8 layers · 8 findings · 16 questions.
Help Care first.
Safety.
Symptoms
Symptoms.
Symptoms
Symptoms.
- Why do persistent scaling skin, infections, overheating or severe scaling in a newborn need assessment by a dermatologist or paediatrician? action
- Is the user asking about their own or a child s skin, which needs a clinician? boundary
Support
Support.
Support
Support.
- What patient organisations and support exist for people with ichthyosis? provenance
- Which entry fits the specific organisation? action
Understand The conditions.
Clinical.
Forms
Forms.
Forms
Forms.
- What are ichthyosis vulgaris, X-linked, lamellar, epidermolytic and syndromic ichthyoses, and how are they classified? definition
- Is the question about inherited ichthyosis, acquired ichthyosis or another scaling condition? boundary
Genetics
Genetics.
Genetics
Genetics.
- Which genes and inheritance patterns underlie the forms, in general terms? definition
- Which entry fits the specific form? action
Care Diagnosis and management.
Clinical.
Diagnosis
Diagnosis.
Diagnosis
Diagnosis.
- How is ichthyosis diagnosed by examination, biopsy and genetic testing? provenance
- Which references are standard? provenance
Management
Management.
Management
Management.
- How is ichthyosis managed with emollients, keratolytics, retinoids and care of complications, in general terms? provenance
- Which sources are cited? provenance
Context Living and research.
Context.
Living
Living with ichthyosis.
Living
Living.
- How do people with ichthyosis describe daily life, and how is stigma addressed? provenance
- Is the presentation respectful? boundary
Research
Research.
Research
Research.
- What research addresses gene therapy and new treatments, with findings attributed? provenance
- Which entry fits skin barrier research? action
What the second pass must settle
- Should ichthyosis vulgaris and lamellar ichthyosis be separate primary entries?
- How should dermatology and genetics sources be linked?
- The registry entry has merged aliases naming rare syndromes; should they be split off?