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Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.
Features include: Progressive reticulate hyperpigmentation.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 1 | Progressive reticulate hyperpigmentation |
KRT5 encodes keratin 5 (590 aa). Required for the formation of keratin intermediate filaments in the basal epidermis and maintenance of the skin barrier in response to mechanical stress. Highest expression in Esophagus Mucosa (7,392 TPM) and Skin Not Sun Exposed Suprapubic (5,833 TPM).
Dowling-Degos disease 1 is associated with mutations in the KRT5 gene on chromosome 12.
The KRT5 protein participates in Mammary stem cell produces myoepithelial/basal progenitor, Transit-amplifying cell of basal layer differentiates into keratinocyte of spinosum layer in interfollicular epidermis, and Embryonic ectoderm cell produces mammary stem cell pathways.
KRT5 is classified as a druggable target with score 0.0.
Genetic testing for KRT5 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Dowling-Degos disease 1 has been reported in the published literature.
No clinical trials have been registered for Dowling-Degos disease 1.
28 publications have been identified in PubMed for Dowling-Degos disease 1. Research spans Case Report / Case Series (65%), Review / Meta-Analysis (19%), and Diagnostic / Biomarker (4%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 17 | 65% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:15 AM UTC
Online Mendelian Inheritance in Man
Common questions about Dowling-Degos disease 1
5 |
19% |
Testing and diagnosis research | 1 | 4% |
Laboratory research | 1 | 4% |
Disease patterns and progression | 1 | 4% |
New treatment approaches | 1 | 4% |
Alshehri MA (2026). [PMID: 42170366](https://pubmed.ncbi.nlm.nih.gov/42170366/). *Cureus*. [Case Report / Case Series]
Sollitto CF (2026). [PMID: 41890462](https://pubmed.ncbi.nlm.nih.gov/41890462/). *Cureus*. [Case Report / Case Series]
Tsai YT (2026). [PMID: 41854241](https://pubmed.ncbi.nlm.nih.gov/41854241/). *J Dtsch Dermatol Ges*. [Case Report / Case Series]
Okamura K (2026). [PMID: 41127964](https://pubmed.ncbi.nlm.nih.gov/41127964/). *J Dermatol*. [Review / Meta-Analysis]
Meena A (2026). [PMID: 41530906](https://pubmed.ncbi.nlm.nih.gov/41530906/). *Clin Exp Dermatol*. [Gene Therapy / Novel Therapeutics]
Solak SS (2026). [PMID: 41885246](https://pubmed.ncbi.nlm.nih.gov/41885246/). *J Dtsch Dermatol Ges*. [Case Report / Case Series]
Garg S (2026). [PMID: 41483502](https://pubmed.ncbi.nlm.nih.gov/41483502/). *An Bras Dermatol*. [Diagnostic / Biomarker]
Silva V (2026). [PMID: 41657526](https://pubmed.ncbi.nlm.nih.gov/41657526/). *JAAD Case Rep*. [Epidemiology / Natural History]
Garbayo-Salmons P (2026). [PMID: 41352596](https://pubmed.ncbi.nlm.nih.gov/41352596/). *Actas Dermosifiliogr*. [Case Report / Case Series]
Song Q (2025). [PMID: 40486197](https://pubmed.ncbi.nlm.nih.gov/40486197/). *Front Med (Lausanne)*. [Case Report / Case Series]
AI-curated news mentioning Dowling-Degos disease 1
Updated Mar 10, 2026
A recent study published in PubMed explores ocular multimodal imaging in a patient with malignant atrophic papulosis, also known as Degos disease. This research contributes to the understanding of the disease's ocular manifestations.