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A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema.
Features include very common findings: Microcephaly, Thickened, rough skin (hyperkeratosis), Skin rash, and Cutaneous photosensitivity and others; and common findings: Glaucoma, Cataract, Diabetes mellitus, and Dry skin and others. 31 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 13 | Thickened, rough skin (hyperkeratosis), Skin rash, Cutaneous photosensitivity |
Phenotype severity distribution: 12 very common features, 8 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for erythrokeratodermia variabilis.
17 publications have been identified in PubMed for erythrokeratodermia variabilis. Research spans Case Report / Case Series (38%), Other (25%), and Review / Meta-Analysis (25%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 38% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 9:54 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Eyes |
3 |
Glaucoma, Cataract, Cloudy or opaque cornea (corneal opacity) |
Growth and development | 2 | Weight loss, Short stature |
Head and neck | 1 | Microcephaly |
Hormones | 1 | Diabetes mellitus |
Ears | 1 | Hearing loss (hearing impairment) |
Arms and legs | 1 | Tapered finger |
Brain and nerves | 1 | Intellectual disability |
Age of onset: newborn period, infancy.
4 |
25% |
Research summaries | 4 | 25% |
Laboratory research | 2 | 13% |
Aghajani M (2026). [PMID: 41065394](https://pubmed.ncbi.nlm.nih.gov/41065394/). *J Eur Acad Dermatol Venereol*. [Review / Meta-Analysis]
Ren W (2026). [PMID: 41814845](https://pubmed.ncbi.nlm.nih.gov/41814845/). *J Dermatol*. [Other]
Hua S (2026). [PMID: 41296677](https://pubmed.ncbi.nlm.nih.gov/41296677/). *Clin Exp Dermatol*. [Case Report / Case Series]
Morikawa-Yujiri Y (2026). [PMID: 42173623](https://pubmed.ncbi.nlm.nih.gov/42173623/). *J Pharmacol Sci*. [Basic Science / Preclinical]
Saito N (2026). [PMID: 41589029](https://pubmed.ncbi.nlm.nih.gov/41589029/). *J Dermatol*. [Other]
Yang Y (2025). [PMID: 40802477](https://pubmed.ncbi.nlm.nih.gov/40802477/). *Australas J Dermatol*. [Other]
Sánchez-Espino LF (2025). [PMID: 40476394](https://pubmed.ncbi.nlm.nih.gov/40476394/). *Pediatr Dermatol*. [Case Report / Case Series]
Lucaciu SA (2025). [PMID: 39817844](https://pubmed.ncbi.nlm.nih.gov/39817844/). *J Physiol*. [Basic Science / Preclinical]
Wei Z (2025). [PMID: 38831602](https://pubmed.ncbi.nlm.nih.gov/38831602/). *J Dermatol*. [Other]
Chang CY (2025). [PMID: 39497469](https://pubmed.ncbi.nlm.nih.gov/39497469/). *Clin Exp Dermatol*. [Case Report / Case Series]