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ORPHA:2897

Pityriasis rubra pilaris

medium confidenceDisorder

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

2,130

93.1th percentile

Trials

6

Interventional, condition-specific

Researchers

859

Distinct authors in sample

Gene link

CARD14

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

Devergie's disease · PRP · hereditary pityriasis rubra pilaris · pityriasis rubra pilaris--familial type

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — CARD14

  2. LiteraturePresent

    2,130 matched papers (990 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    6 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (CARD14).

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?

2,130

2,130 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

2,130 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).

990 in the last 10 years · medium confidence · 93.1th percentile (publications denominator)

Phrase hits: 2,130 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

859

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Greiling TM4 papers · 2026

    Department of Dermatology, Oregon Health and Science University, 3303 SW Bond Ave CH16D, Portland, OR, 97239, USA. Greiling@ohsu.edu.

    Papers in Europe PMC
  2. 02
    Lai FYX4 papers · 2026

    Department of Dermatology, Monash Health, Melbourne, VIC, Australia.

    Papers in Europe PMC
  3. 03
    Lee S4 papers · 2026

    Department of Dermatology, Monash Health, Melbourne, VIC, Australia.

    Papers in Europe PMC
  4. 04
    Megna M4 papers · 2026

    Section of Dermatology - Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.

    Papers in Europe PMC
  5. 05
    Potestio L4 papers · 2026

    Section of Dermatology - Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.

    Papers in Europe PMC
  6. 06
    Albadri A3 papers · 2025

    Dermatology, King Fahad General Hospital, Jeddah, SAU.

    Papers in Europe PMC
  7. 07
    Fageeh SM3 papers · 2025

    Medicine, Faculty of Medicine, Umm Al-Qura University, Makkah, SAU.

    Papers in Europe PMC
  8. 08
    Li Y3 papers · 2026

    Department of Dermatology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  9. 09
    Shao C3 papers · 2024

    Department of Dermatology, Oregon Health and Science University, 3303 SW Bond Ave CH16D, Portland, OR, 97239, USA.

    Papers in Europe PMC
  10. 10
    Tommasino N3 papers · 2026

    Section of Dermatology-Department of Clinical Medicine and Surgery, University of Naples Federico II, 80131 Napoli, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).

medium confidence · 89th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

6 interventional trials matched after quoted-phrase search and title/condition post-filter.

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 on the overview but are not added to the query string.

"Pityriasis rubra pilaris" OR "Devergie's disease" OR "hereditary pityriasis rubra pilaris" OR "pityriasis rubra pilaris--familial type"

Run this search on Europe PMC

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

"Pityriasis rubra pilaris" OR "Devergie's disease" OR "hereditary pityriasis rubra pilaris" OR "pityriasis rubra pilaris--familial type" OR "CARD14"

Recall-expansion terms: CARD14

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 6 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PRP

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T21:35:57.217Z