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Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene.
Features include: Hypergranulosis, Epidermal acanthosis, Pruritus, and Papule.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 2 | Pruritus, Papule |
POGLUT1 function has not been fully characterized.
Dowling-Degos disease 4 is associated with mutations in the POGLUT1 gene on chromosome 3.
Genetic testing for POGLUT1 is available. Testing is considered confirmatory for diagnosis.
No clinical trials have been registered for Dowling-Degos disease 4.
4 publications have been identified in PubMed for Dowling-Degos disease 4. Research spans Case Report / Case Series (75%) and Review / Meta-Analysis (25%).
Tomasini D (2025). [PMID: 40469237](https://pubmed.ncbi.nlm.nih.gov/40469237/). *JID Innov*. [Case Report / Case Series]
Mathur M (2025). [PMID: 40667493](https://pubmed.ncbi.nlm.nih.gov/40667493/). *Clin Case Rep*. [Case Report / Case Series]
Hanifa H (2025). [PMID: 40624600](https://pubmed.ncbi.nlm.nih.gov/40624600/). *J Med Case Rep*. [Case Report / Case Series]
Kumar S (2025). [PMID: 40674458](https://pubmed.ncbi.nlm.nih.gov/40674458/). *Br J Dermatol*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:50 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Dowling-Degos disease 4