ORPHA:281190
Congenital reticular ichthyosiform erythroderma
Also known as: CRIE · IWC · Ichthyosis variegata · Ichthyosis with confetti
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
130
62.9th percentile
Trials
0
Interventional, condition-specific
Researchers
690
Distinct authors in sample
Gene link
KRT10
Strong
Readiness
2/6
Stages with a signal
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:0012208
- MeSH:C563781
- OMIM:609165
- UMLS:C3665704
Additional Mondo synonyms (2)
ichthyosis variegata · ichthyosis with confetti
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — KRT10
- LiteraturePresent
130 matched papers (81 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?
Yes — we know a specific gene responsible (KRT10).
GenCC classification: Strong.
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?
130
130 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.
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).
81 in the last 10 years · medium confidence · 62.9th percentile (publications denominator)
Phrase hits: 130 · MeSH hits: 0
Who's working on it?
690
Distinct author names in 130 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.
- 01Choate KA10 papers · 2024
Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA. Electronic address: Keith.choate@yale.edu.
Papers in Europe PMC - 02Milstone LM8 papers · 2022
Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA. leonard.milstone@yale.edu
Papers in Europe PMC - 03Akiyama M7 papers · 2024
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Papers in Europe PMC - 04Fischer J7 papers · 2026
Institute of Human Genetics, University Medical Center Freiburg, Freiburg, Germany.
Papers in Europe PMC - 05Lifton RP5 papers · 2022
Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, United States.
Papers in Europe PMC - 06Mazereeuw-Hautier J5 papers · 2022
Paul Sabatier University and Department of Dermatology, Rare Skin Diseases Reference Center, Larrey Hospital, CHU Toulouse, Toulouse, France
Papers in Europe PMC - 07Nomura T5 papers · 2021
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan nomura@huhp.hokudai.ac.jp.
Papers in Europe PMC - 08Paller AS5 papers · 2025
Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Papers in Europe PMC - 09Tadini G5 papers · 2023
Section of Dermatology, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico di Milano, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Papers in Europe PMC - 10Burger B4 papers · 2020
Research Group of Dermatology, Department of Biomedicine, University Hospital Basel, Basel, 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.
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.
"Congenital reticular ichthyosiform erythroderma" OR "Ichthyosis variegata" OR "Ichthyosis with confetti"
MeSH descriptor terms unioned into the query: Erythrokeratoderma, Reticular
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital reticular ichthyosiform erythroderma" OR "Ichthyosis variegata" OR "Ichthyosis with confetti" OR "Erythrokeratoderma, Reticular" OR "KRT10"
Recall-expansion terms: KRT10
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CRIE; IWC
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T11:59:44.914Z