ORPHA:79503
Ichthyosis hystrix of Curth-Macklin
Also known as: Ichthyosis hystrix, Curth-Macklin type
Publications
26
28.7th percentile
Trials
0
Interventional, condition-specific
Researchers
146
Distinct authors in sample
Gene link
KRT1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).
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:0007808
- MeSH:C536088
- OMIM:146590
- UMLS:C1840296
Additional Mondo synonyms (7)
Curth-Macklin type ichthyosis hystrix · IHCM · Ichthyosis Hystrix, Curth Macklin Type · ichthyosis HYSTRIX, Curth-Macklin type · ichthyosis histrix, curth-macklin type · ichthyosis hystrix, Curth Macklin type · ichthyosis hystrix, Curth-Macklin 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.”
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
Definitive — KRT1
- LiteraturePresent
26 matched papers (11 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 (KRT1).
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?
26
26 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.
26 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).
11 in the last 10 years · medium confidence · 28.7th percentile (publications denominator)
Phrase hits: 26 · MeSH hits: 1
Who's working on it?
146
Distinct author names in 26 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.
- 01Anton-Lamprecht I3 papers · 1996Papers in Europe PMC
- 02Fischer J3 papers · 2026
Institute of Human Genetics, Medical Faculty and Medical Center, University of Freiburg, Freiburg, Germany.
Papers in Europe PMC - 03Traupe H3 papers · 2026
Klinik für Hautkrankheiten, Universitätsklinik Münster, 48149 Münster, Germany.
Papers in Europe PMC - 04Guzman AK2 papers · 2017
Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
Papers in Europe PMC - 05Ishida-Yamamoto A2 papers · 2011
Department of Dermatology, Asahikawa Medical College, Japan. akemi@asahikawa-med.ac.jp
Papers in Europe PMC - 06James WD2 papers · 2017
Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
Papers in Europe PMC - 07Metze D2 papers · 2026
Klinik für Hautkrankheiten, Universitätsklinik Münster, 48149 Münster, Germany.
Papers in Europe PMC - 08Oji V2 papers · 2026
Department of Dermatology, University Hospital of Münster, Münster, Germany.
Papers in Europe PMC - 09Richard G2 papers · 2007Papers in Europe PMC
- 10Saha A2 papers · 2015
Departments of Dermatology, Institute of Post Graduate Medical Education Research, Kolkata, India.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Broader category ichthyosis hystrix also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: ichthyosis hystrix
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Ichthyosis hystrix of Curth-Macklin" OR "Ichthyosis hystrix of the Curth-Macklin" OR "Ichthyosis hystrix, Curth-Macklin type" OR "Curth-Macklin type ichthyosis hystrix" OR "Ichthyosis Hystrix, Curth Macklin Type" OR "ichthyosis histrix, curth-macklin type"
MeSH descriptor terms unioned into the query: Ichthyosis hystrix, Curth Macklin type
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ichthyosis hystrix of Curth-Macklin" OR "Ichthyosis hystrix of the Curth-Macklin" OR "Ichthyosis hystrix, Curth-Macklin type" OR "Curth-Macklin type ichthyosis hystrix" OR "Ichthyosis Hystrix, Curth Macklin Type" OR "ichthyosis histrix, curth-macklin type" OR "KRT1" OR "keratinopathic ichthyosis" OR "inherited ichthyosis"
Recall-expansion terms: KRT1, keratinopathic ichthyosis, inherited ichthyosis
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"ichthyosis hystrix"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: IHCM
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 2026-07-27T02:31:36.575Z