RARE DISEASERESEARCH ATLAS

ORPHA:316

Progressive symmetric erythrokeratodermia

low confidence

Also known as: Darier-Gottron disease · Erythrokeratodermia progressiva symmetrica · Progressive symmetric erythrokeratodermia, Gottron type

How rare: How common this is has not been clearly measured.

Orphanet entry

Is anyone studying this?

50

50 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=183) is 38.

50 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).

22 in the last 10 years · low confidence

Is a treatment being tested?

0

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 26 July 2026

No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.

low confidence · 29.6th percentile (trials denominator)

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Who's working on it?

256

Distinct author names in 50 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.

  1. 01
    Lin Z5 papers · 2025

    Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China. Electronic address: zhimiaolin@bjmu.edu.cn.

    Papers in Europe PMC
  2. 02
    Wang H5 papers · 2025

    Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China; Peking-Tsinghua Center for Life Sciences, Beijing, China; Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China.

    Papers in Europe PMC
  3. 03
    Li M4 papers · 2026

    Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.

    Papers in Europe PMC
  4. 04
    Cui Y3 papers · 2014
    Papers in Europe PMC
  5. 05
    Wang Z3 papers · 2024

    Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing, China.

    Papers in Europe PMC
  6. 06
    Yang S3 papers · 2014
    Papers in Europe PMC
  7. 07
    Zheng J3 papers · 2025

    Department of Physiology and Membrane Biology, School of Medicine, University of California, Davis, California, United States.

    Papers in Europe PMC
  8. 08
    Chen JJ2 papers · 2006
    Papers in Europe PMC
  9. 09
    Davis LS2 papers · 2019

    Department of Dermatology at the Medical College of Georgia at Augusta University, Augusta, Georgia.

    Papers in Europe PMC
  10. 10
    Frank J2 papers · 2024

    Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, 37075 Göttingen, Germany.

    Papers in Europe PMC

Recruiting interventional trials

Trials testing a treatment 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 above — 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 2026-07-26

This 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 below but are not added to the query string.

"Progressive symmetric erythrokeratodermia" OR "Darier-Gottron disease" OR "Erythrokeratodermia progressiva symmetrica" OR "Progressive symmetric erythrokeratodermia, Gottron type"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Progressive symmetric erythrokeratodermia" OR "Darier-Gottron disease" OR "Erythrokeratodermia progressiva symmetrica" OR "Progressive symmetric erythrokeratodermia, Gottron type"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

0

Query health: ok — strategies attempted: phrase; with hits: phrase

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
  • No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low

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