ORPHA:289478
PASH syndrome
Also known as: Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome
Publications
131
68.2th percentile
Trials
0
Interventional, condition-specific
Researchers
591
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017332
- UMLS:C5191642
Additional Mondo synonyms (1)
pash syndrome
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
131 matched papers (110 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
131
131 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.
131 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).
110 in the last 10 years · medium confidence · 68.2th percentile (publications denominator)
Phrase hits: 131 · MeSH hits: 0
Who's working on it?
591
Distinct author names in 131 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.
- 01Akiyama M3 papers · 2024
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Papers in Europe PMC - 02Braun-Falco M3 papers · 2017
Department of Dermatology and Allergy, Ludwig-Maximilian-University, Munich, Germany. braun-falco@med.uni-muenchen.de
Papers in Europe PMC - 03Frew JW3 papers · 2020
Laboratory for Investigative Dermatology, The Rockefeller University, New York, NY, U.S.A.
Papers in Europe PMC - 04Kaffenberger B3 papers · 2024
Department of Internal Medicine, Division of Dermatology, Ohio State University, Columbus, OH, USA.
Papers in Europe PMC - 05Marzano AV3 papers · 2023
UO Dermatologia, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, Università degli Studi di Milano, Milano, Italy. angelovalerio.marzano@policlinico.mi.it
Papers in Europe PMC - 06Ruzicka T3 papers · 2017
Department of Dermatology, Ludwig-Maximilian University Munich, Munich, Germany.
Papers in Europe PMC - 07Alavi A2 papers · 2019
Department of Medicine, University of Toronto, Toronto, Ontario, M5S 1A8, Canada.
Papers in Europe PMC - 08Breda L2 papers · 2023
Department of Pediatrics, University of Chieti, 66100 Chieti, Italy.
Papers in Europe PMC - 09Caroli F2 papers · 2014Papers in Europe PMC
- 10Chiarelli F2 papers · 2023
Department of Pediatrics, University of Chieti, 66100 Chieti, Italy.
Papers in Europe PMC
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.
medium 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.
"PASH syndrome" OR "Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"PASH syndrome" OR "Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T12:13:40.645Z