ORPHA:113
Bazex-Dupré-Christol syndrome
Also known as: BDCS · Follicular atrophoderma and basal cell carcinomas
Publications
526
Trials
0
Interventional, condition-specific
Researchers
962
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.
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:0010535
- OMIM:301845
- UMLS:C0346104
Additional Mondo synonyms (7)
Bazex syndrome · Bazex syndrome, X-linked dominant · Bazex-Dupre-Christol syndrome · acrokeratosis of Bazex · acrokeratosis paraneoplastica · acrokeratosis paraneoplastica of Bazex · follicular atrophoderma and basal cell carcinomas
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
526 matched papers (265 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?
526
526 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.
526 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).
265 in the last 10 years · low confidence
Phrase hits: 526 · MeSH hits: 0
Who's working on it?
962
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.
- 01Liu Y7 papers · 2025
Department of Urology, Shenzhen Second People's Hospital, the First Affiliated Hospital of Shenzhen University, Shenzhen 518000, China.
Papers in Europe PMC - 02Frank J5 papers · 2022
Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, 37075, Göttingen, Germany.
Papers in Europe PMC - 03Hohl D5 papers · 2022
Dermatology Dept, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Papers in Europe PMC - 04Abuzahra F4 papers · 2022
Department of Dermatology, Zaans Medical Center, Zaandam, The Netherlands.
Papers in Europe PMC - 05Bygum A4 papers · 2022
Department of Clinical Genetics, Odense University Hospital, 5230, Odense, Denmark.
Papers in Europe PMC - 06Vabres P4 papers · 2021
Research Unit INSERM U 393, Hôpital Necker Enfants-Malades, Paris, France.
Papers in Europe PMC - 07Zhang X4 papers · 2025
McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100005, China.
Papers in Europe PMC - 08Bachmann D3 papers · 2021
Department of Dermatology, Lausanne University Hospital, Hôpital de Beaumont, Lausanne, Switzerland.
Papers in Europe PMC - 09Blanchard G3 papers · 2022
Department of Dermatology, CHUV-FBM UNIL, Beaumont Hospital, Lausanne, Switzerland.
Papers in Europe PMC - 10Chiticariu E3 papers · 2021
Department of Dermatology, Lausanne University Hospital, Hôpital de Beaumont, Lausanne, Switzerland.
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.
low 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.
"Bazex-Dupré-Christol syndrome" OR "Follicular atrophoderma and basal cell carcinomas" OR "Bazex syndrome" OR "Bazex syndrome, X-linked dominant" OR "Bazex-Dupre-Christol syndrome" OR "acrokeratosis of Bazex" OR "acrokeratosis of the Bazex" OR "acrokeratosis paraneoplastica" OR "acrokeratosis paraneoplastica of Bazex" OR "acrokeratosis paraneoplastica of the Bazex"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Bazex-Dupré-Christol syndrome" OR "Follicular atrophoderma and basal cell carcinomas" OR "Bazex syndrome" OR "Bazex syndrome, X-linked dominant" OR "Bazex-Dupre-Christol syndrome" OR "acrokeratosis of Bazex" OR "acrokeratosis of the Bazex" OR "acrokeratosis paraneoplastica" OR "acrokeratosis paraneoplastica of Bazex" OR "acrokeratosis paraneoplastica of the Bazex"
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: BDCS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- "Bazex syndrome" also appears on ORPHA:166113
- "acrokeratosis of Bazex" also appears on ORPHA:166113
- "acrokeratosis paraneoplastica" also appears on ORPHA:166113
- "acrokeratosis paraneoplastica of Bazex" also appears on ORPHA:166113
- Publication count (526) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T12:28:27.517Z