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Features include always present findings: Woolly hair, Anhidrosis, Palmoplantar hyperkeratosis, and Dystrophic toenail.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 2 | Anhidrosis, Palmoplantar hyperkeratosis |
Arms and legs |
PERP function has not been fully characterized.
Erythrokeratodermia variabilis et progressiva 7 is associated with mutations in the PERP gene on chromosome 6.
Genetic testing for PERP is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features.
No clinical trials have been registered for erythrokeratodermia variabilis et progressiva 7.
1 publication has been identified in PubMed for erythrokeratodermia variabilis et progressiva 7. Research spans Review / Meta-Analysis (100%).
Lucaciu SA (2024). [PMID: 39513663](https://pubmed.ncbi.nlm.nih.gov/39513663/). *Biochem J*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
1
Dystrophic toenail |