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Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene.
Features include sometimes findings: Hyperkeratotic papule. 4 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 3 | Hyperkeratotic papule, Reticular hyperpigmentation, Follicular hyperkeratosis |
POFUT1 function has not been fully characterized.
Dowling-Degos disease 2 is caused by mutations in the POFUT1 gene on chromosome 20.
Genetic testing for POFUT1 is available. Testing is considered confirmatory for diagnosis.
No clinical trials have been registered for Dowling-Degos disease 2.
10 publications have been identified in PubMed for Dowling-Degos disease 2. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 50% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Dowling-Degos disease 2
2 |
20% |
Disease patterns and progression | 2 | 20% |
Laboratory research | 1 | 10% |
Okamura K (2026). [PMID: 41127964](https://pubmed.ncbi.nlm.nih.gov/41127964/). *The Journal of dermatology*. [Review / Meta-Analysis]
Garbayo-Salmons P (2026). [PMID: 41352596](https://pubmed.ncbi.nlm.nih.gov/41352596/). *Actas dermo-sifiliograficas*. [Epidemiology / Natural History]
Solak SS (2026). [PMID: 41885246](https://pubmed.ncbi.nlm.nih.gov/41885246/). *J Dtsch Dermatol Ges*. [Case Report / Case Series]
Sollitto CF (2026). [PMID: 41890462](https://pubmed.ncbi.nlm.nih.gov/41890462/). *Cureus*. [Case Report / Case Series]
Yang L (2025). [PMID: 40528398](https://pubmed.ncbi.nlm.nih.gov/40528398/). *The Journal of dermatological treatment*. [Case Report / Case Series]
Hanifa H (2025). [PMID: 40624600](https://pubmed.ncbi.nlm.nih.gov/40624600/). *Journal of medical case reports*. [Case Report / Case Series]
Gupta V (2025). [PMID: 40357971](https://pubmed.ncbi.nlm.nih.gov/40357971/). *Indian journal of dermatology, venereology and leprology*. [Basic Science / Preclinical]
Tomasini D (2025). [PMID: 40469237](https://pubmed.ncbi.nlm.nih.gov/40469237/). *JID innovations : skin science from molecules to population health*. [Epidemiology / Natural History]
Mathur M (2025). [PMID: 40667493](https://pubmed.ncbi.nlm.nih.gov/40667493/). *Clinical case reports*. [Case Report / Case Series]
Kumar S (2025). [PMID: 40674458](https://pubmed.ncbi.nlm.nih.gov/40674458/). *The British journal of dermatology*. [Review / Meta-Analysis]