ORPHA:100976
Bathing suit ichthyosis
Also known as: BSI
Publications
67
50.8th percentile
Trials
0
Interventional, condition-specific
Researchers
383
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Bathing suit ichthyosis (BSI) is a rare variant of ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.
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:0015085
- UMLS:C4511230
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
67 matched papers (43 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?
67
67 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.
67 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).
43 in the last 10 years · medium confidence · 50.8th percentile (publications denominator)
Phrase hits: 67 · MeSH hits: 0
Who's working on it?
383
Distinct author names in 67 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.
- 01Fischer J5 papers · 2026
Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, DE-79106 Freiburg, Germany. judith.fischer@uniklinik-freiburg.de.
Papers in Europe PMC - 02Hennies HC5 papers · 2019
Department of Biological and Geographical Sciences, University of Huddersfield, Huddersfield, UK.
Papers in Europe PMC - 03Oji V5 papers · 2026
Department of Dermatology, University of Muenster, Von-Esmarch-Str. 58 D-48149, Münster, Germany. ojiv@mednet.uni-muenster.de
Papers in Europe PMC - 04Traupe H5 papers · 2026
Klinik für Hautkrankheiten, Universitätsklinik Münster, 48149 Münster, Germany.
Papers in Europe PMC - 05Zaouak A4 papers · 2024
Habib Thameur Hospital, Dermatology Department, 1008 Tunis, Tunisia.
Papers in Europe PMC - 06Abdelhak S3 papers · 2024
Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis El Manar University, 1002 Tunis Belvédère, Tunisia.
Papers in Europe PMC - 07Akiyama M3 papers · 2016
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan. akiyama@med.hokudai.ac.jp
Papers in Europe PMC - 08Bourrat E3 papers · 2024
Department of Dermatology, Hôpital Saint-Louis, Paris, France.
Papers in Europe PMC - 09Hausser I3 papers · 2026
Institute of Pathology, Heidelberg University Hospital, 69120 Heidelberg, Germany.
Papers in Europe PMC - 10Hitomi K3 papers · 2014Papers 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.
"Bathing suit ichthyosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Bathing suit ichthyosis"
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
Synonyms dropped by stoplist: BSI
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 2026-07-27T07:07:43.786Z