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ORPHA:79503

Ichthyosis hystrix of Curth-Macklin

low confidenceDisorder

Also known as: Ichthyosis hystrix, Curth-Macklin type

Publications

11,029

Trials

0

Interventional, condition-specific

Researchers

146

Distinct authors in sample

Gene link

KRT1

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Definitive — KRT1

  2. LiteraturePresent

    11,029 matched papers (7,158 in last 10 years) Source

  3. Phenotype characterisedPresent

    15 HPO annotations (e.g. Abnormal blistering of the skin; Knuckle pad; Palmoplantar keratoderma) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

15

Associated phenotypes · MONDO:0007808

  • Abnormal blistering of the skin
  • Knuckle pad
  • Palmoplantar keratoderma
  • Fragile skin
  • Scaling skin

Showing 5 of 15 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

11,029

11,029 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

11,029 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

7,158 in the last 10 years · low confidence

Phrase hits: 26 · MeSH hits: 1

Open Europe PMC search

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.

  1. 01
    Anton-Lamprecht I3 papers · 1996
    Papers in Europe PMC
  2. 02
    Fischer J3 papers · 2026

    Institute of Human Genetics, Medical Faculty and Medical Center, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  3. 03
    Traupe H3 papers · 2026

    Klinik für Hautkrankheiten, Universitätsklinik Münster, 48149 Münster, Germany.

    Papers in Europe PMC
  4. 04
    Guzman AK2 papers · 2017

    Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

    Papers in Europe PMC
  5. 05
    Ishida-Yamamoto A2 papers · 2011

    Department of Dermatology, Asahikawa Medical College, Japan. akemi@asahikawa-med.ac.jp

    Papers in Europe PMC
  6. 06
    James WD2 papers · 2017

    Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

    Papers in Europe PMC
  7. 07
    Metze D2 papers · 2026

    Klinik für Hautkrankheiten, Universitätsklinik Münster, 48149 Münster, Germany.

    Papers in Europe PMC
  8. 08
    Oji V2 papers · 2026

    Department of Dermatology, University Hospital of Münster, Münster, Germany.

    Papers in Europe PMC
  9. 09
    Richard G2 papers · 2007
    Papers in Europe PMC
  10. 10
    Saha 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Ichthyosis hystrix of Curth-Macklin — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR (MESH:"Ichthyosis hystrix, Curth Macklin type") OR ("KRT1" OR "KRT1 syndrome" OR "KRT1-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"ichthyosis hystrix"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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
  • Publication count (11029) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T02:31:36.575Z