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A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.
Features include very common findings: Ectropion, Dry skin, Thickened, rough skin (hyperkeratosis), and Pruritus and others; and common findings: Everted lower lip vermilion and Abnormal helix morphology. 21 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 6 | Dry skin, Thickened, rough skin (hyperkeratosis), Pruritus |
Biomarker and diagnostic research for lamellar ichthyosis has been reported in the published literature.
Phenotype severity distribution: 10 very common features, 2 common features.
Estimated prevalence: 1-9 in 1,000,000 (Rare).
No clinical trials have been registered for lamellar ichthyosis.
37 publications have been identified in PubMed for lamellar ichthyosis. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (19%), and Epidemiology / Natural History (11%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 14 | 38% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:59 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Head and neck
1 |
Everted lower lip vermilion |
Kidneys and urinary system | 1 | Reduced kidney function (renal insufficiency) |
Ears | 1 | Chronic otitis media |
Lungs and breathing | 1 | Recurrent respiratory infections |
Blood and immune system | 1 | Recurrent respiratory infections |
Growth and development | 1 | Short stature |
Brain and nerves | 1 | Difficulty with thinking and memory (cognitive impairment) |
Age of onset: infancy.
7 |
19% |
Disease patterns and progression | 4 | 11% |
New treatment approaches | 4 | 11% |
Other research | 3 | 8% |
Testing and diagnosis research | 3 | 8% |
Research summaries | 2 | 5% |
Kim M (2026). [PMID: 41966446](https://pubmed.ncbi.nlm.nih.gov/41966446/). *J Invest Dermatol*. [Diagnostic / Biomarker]
Süßmuth K (2026). [PMID: 41892076](https://pubmed.ncbi.nlm.nih.gov/41892076/). *Dermatopathology (Basel)*. [Diagnostic / Biomarker]
Aw Hashi MO (2026). [PMID: 41940243](https://pubmed.ncbi.nlm.nih.gov/41940243/). *Int Med Case Rep J*. [Case Report / Case Series]
Du J (2026). [PMID: 41677380](https://pubmed.ncbi.nlm.nih.gov/41677380/). *Paediatr Anaesth*. [Other]
Ishitsuka Y (2026). [PMID: 42002762](https://pubmed.ncbi.nlm.nih.gov/42002762/). *J Dermatol*. [Other]
Luboń W (2026). [PMID: 42072832](https://pubmed.ncbi.nlm.nih.gov/42072832/). *Diagnostics (Basel)*. [Diagnostic / Biomarker]
Sefer AP (2025). [PMID: 41346588](https://pubmed.ncbi.nlm.nih.gov/41346588/). *Frontiers in immunology*. [Epidemiology / Natural History]
Ponomarev A (2025). [PMID: 41155269](https://pubmed.ncbi.nlm.nih.gov/41155269/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Mazzetto R (2025). [PMID: 40152134](https://pubmed.ncbi.nlm.nih.gov/40152134/). *Journal of paediatrics and child health*. [Case Report / Case Series]
Nukaly HY (2025). [PMID: 41123899](https://pubmed.ncbi.nlm.nih.gov/41123899/). *JAMA dermatology*. [Case Report / Case Series]