ORPHA:79145
Dowling-Degos disease
Also known as: Reticular pigment anomaly of flexures
Publications
446
84th percentile
Trials
0
Interventional, condition-specific
Researchers
950
Distinct authors in sample
Gene link
KRT5
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008371
- MeSH:C562924
- UMLS:C3714534
Additional Mondo synonyms (2)
Dowling-Degos disease type 1 · reticular pigment anomaly of flexures
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — KRT5
- LiteraturePresent
446 matched papers (283 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (KRT5).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
446
446 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
446 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
283 in the last 10 years · high confidence · 84th percentile (publications denominator)
Phrase hits: 446 · MeSH hits: 13
Who's working on it?
950
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Betz RC11 papers · 2025
Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Papers in Europe PMC - 02Frank J8 papers · 2025
Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany.
Papers in Europe PMC - 03Ralser DJ7 papers · 2025
Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Papers in Europe PMC - 04Kumar S5 papers · 2026
Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany.
Papers in Europe PMC - 05Wenzel J5 papers · 2025
Department of Dermatology, University of Bonn, Bonn, Germany.
Papers in Europe PMC - 06Crovella S4 papers · 2023
Department of Advanced Diagnostics, Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', Trieste, Italy.
Papers in Europe PMC - 07Hanneken S4 papers · 2024
Department of Dermatology, University Hospital Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, Germany. Hanneken@med.uni-duesseldorf.de
Papers in Europe PMC - 08Tricarico PM4 papers · 2023
Department of Advanced Diagnostics, Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', Trieste, Italy.
Papers in Europe PMC - 09Agut-Busquet E3 papers · 2026
Department of Dermatology, Hospital Universitari Parc Tauli, Universitat Autonoma de Barcelona, ES-08230 Matadepera, Spain. eagutbusquet@gmail.com.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Dowling-Degos disease" OR "Reticular pigment anomaly of flexures" OR "Reticular pigment anomaly of the flexures" OR "Dowling-Degos disease type 1"
MeSH descriptor terms unioned into the query: Dowling-Degos Disease
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Dowling-Degos disease" OR "Reticular pigment anomaly of flexures" OR "Reticular pigment anomaly of the flexures" OR "Dowling-Degos disease type 1" OR "KRT5"
Recall-expansion terms: KRT5
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T02:03:18.094Z