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Start free with EleplanLamellar ichthyosis
ORPHA:313Disease
Also called LI
What it is
A rare autosomal recessive congenital ichthyosis characterized by the presence of large scales all over the body without significant erythroderma.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive
- 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%
14Common30–79%
10Sometimes5–29%
12- Amniotic constriction ring
- Blepharitis
- Chronic irritative conjunctivitis
- Corneal ulceration
- Dehydration
- Erythroderma
- Euryblepharon
- Keratitis
and 4 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.
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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