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A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows.
Features include always present findings: Epidermal acanthosis and Thickened, rough skin (hyperkeratosis). 7 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 4 | Ridged nail, Punctate palmoplantar hyperkeratosis, Verrucous papule |
ATP2A2 encodes ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 (1,042 aa). This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Highest expression in Muscle Skeletal (1,018 TPM) and Heart Atrial Appendage (634.6 TPM).
Acrokeratosis verruciformis is associated with mutations in the ATP2A2 gene on chromosome 12.
ATP2A2 is classified as a druggable target (Druggable Genome, Enzyme, and Transporter categories) with score 2.3.
Genetic testing for ATP2A2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for acrokeratosis verruciformis.
9 publications have been identified in PubMed for acrokeratosis verruciformis. Research spans Case Report / Case Series (78%), Review / Meta-Analysis (11%), and Basic Science / Preclinical (11%).
Kostopoulos-Kanitakis KA (2026). [PMID: 42205461](https://pubmed.ncbi.nlm.nih.gov/42205461/). *Med Int (Lond)*. [Review / Meta-Analysis]
Sathe NC (2026). [PMID: 30725935](https://pubmed.ncbi.nlm.nih.gov/30725935/). *Unknown Journal*. [Case Report / Case Series]
Mathur M (2025). [PMID: 40933297](https://pubmed.ncbi.nlm.nih.gov/40933297/). *Clinical case reports*. [Case Report / Case Series]
Singh G (2025). [PMID: 40256087](https://pubmed.ncbi.nlm.nih.gov/40256087/). *Journal of family medicine and primary care*. [Case Report / Case Series]
Cabello-Hernández AI (2025). [PMID: 41054640](https://pubmed.ncbi.nlm.nih.gov/41054640/). *Cureus*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about acrokeratosis verruciformis
Edwards TM (2024). [PMID: 39654849](https://pubmed.ncbi.nlm.nih.gov/39654849/). *JAAD Case Rep*. [Case Report / Case Series]
Atzmony L (2024). [PMID: 38536168](https://pubmed.ncbi.nlm.nih.gov/38536168/). *JAMA dermatology*. [Basic Science / Preclinical]
Goswami A (2024). [PMID: 38854358](https://pubmed.ncbi.nlm.nih.gov/38854358/). *Cureus*. [Case Report / Case Series]
AI-curated news mentioning acrokeratosis verruciformis
Updated May 12, 2026
A review article discusses the genetic, clinicopathologic, and therapeutic features of acrokeratosis verruciformis of Hopf. This condition, characterized by wart-like lesions, highlights the need for further research into its underlying mechanisms and treatment options.