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ORPHA:79394

Congenital ichthyosiform erythroderma

medium confidenceDisorder

Also known as: CIE · Erythrodermic ichthyosis · Non-bullous congenital ichthyosiform erythroderma

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

2,081

92.7th percentile

Trials

1

Interventional, condition-specific

Researchers

1,166

Distinct authors in sample

Gene link

ALOX12B, ALOXE3

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare ichthyosis (ARCI) characterized by generalised scaling accompanied by a more or less severe erythroderma, without blister formation.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (8)

alligator skin · congenital ichthyosiform erythroderma · congenital ichthyosiform erythroderma (disease) · congenital non bullous ichthyosiform erythroderma · erythrodermic ichthyosis · ichthyosiform erythroderma · non-bullous congenital ichthyosiform erythroderma · nonbullous congenital ichthyosiform erythroderma

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — ALOX12B, ALOXE3

  2. LiteraturePresent

    2,081 matched papers (860 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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 (ALOX12B, ALOXE3).

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?

2,081

2,081 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.

2,081 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).

860 in the last 10 years · medium confidence · 92.7th percentile (publications denominator)

Phrase hits: 2,081 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,166

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Akiyama M6 papers · 2025

    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: makiyama@med.nagoya-u.ac.jp.

    Papers in Europe PMC
  2. 02
    Fischer J6 papers · 2026

    Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.

    Papers in Europe PMC
  3. 03
    Oji V6 papers · 2026

    Department of Dermatology and Venereology, Münster University Medical Center, 48149 Münster, Germany.

    Papers in Europe PMC
  4. 04
    Paller AS6 papers · 2026

    Departments of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

    Papers in Europe PMC
  5. 05
    Süßmuth K6 papers · 2026

    Department of Dermatology and Venereology, Münster University Medical Center, 48149 Münster, Germany.

    Papers in Europe PMC
  6. 06
    Komlosi K5 papers · 2026

    Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.

    Papers in Europe PMC
  7. 07
    Missaglia S5 papers · 2023

    Laboratory of Cellular Biochemistry and Molecular Biology-CRIBENS, Catholic University of the Sacred Heart, pz Buonarroti 30, 20145, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Takeichi T5 papers · 2025

    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: takeichi@med.nagoya-u.ac.jp.

    Papers in Europe PMC
  9. 09
    Tavian D5 papers · 2023

    Laboratory of Cellular Biochemistry and Molecular Biology-CRIBENS, Catholic University of the Sacred Heart, pz Buonarroti 30, 20145, Milan, Italy. daniela.tavian@unicatt.it.

    Papers in Europe PMC
  10. 10
    Hotz A4 papers · 2024

    Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 2026-07-26

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.

"Congenital ichthyosiform erythroderma" OR "Erythrodermic ichthyosis" OR "Non-bullous congenital ichthyosiform erythroderma" OR "alligator skin" OR "congenital ichthyosiform erythroderma (disease)" OR "congenital non bullous ichthyosiform erythroderma" OR "ichthyosiform erythroderma" OR "nonbullous congenital ichthyosiform erythroderma"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Congenital ichthyosiform erythroderma" OR "Erythrodermic ichthyosis" OR "Non-bullous congenital ichthyosiform erythroderma" OR "alligator skin" OR "congenital ichthyosiform erythroderma (disease)" OR "congenital non bullous ichthyosiform erythroderma" OR "ichthyosiform erythroderma" OR "nonbullous congenital ichthyosiform erythroderma" OR "ALOX12B" OR "ALOXE3"

Recall-expansion terms: ALOX12B, ALOXE3

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CIE

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 2026-07-27T02:20:29.658Z