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Start free with EleplanHarlequin ichthyosis
ORPHA:457Disease
Also called Autosomal congenital ichthyosis, Harlequin type · HI · Ichthyosis congenita, Harlequin type
What it is
A rare autosomal recessive congenital ichthyosis characterized at birth by the presence of large, thick, plate-like shell over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. Harlequin ichthyosis is the most severe disorder of this group.
Key facts
- Age of onset
- Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Recorded for the broader condition
- Prevalence
- 1-9 / 1 000 000 (Europe)Autosomal recessive congenital ichthyosis
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
Very common80–99%
7These 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
ICD-10 codes
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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