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ORPHA:79394

Congenital ichthyosiform erythroderma

medium confidenceDisorder

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

Publications

5,828

92th percentile

Trials

1

Interventional, condition-specific

Researchers

1,166

Distinct authors in sample

Gene link

ALOX12B, ALOXE3

Strong

Readiness

6/6

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.”

6/6 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

    5,828 matched papers (2,912 in last 10 years) Source

  3. Phenotype characterisedPresent

    82 HPO annotations (e.g. Everted lower lip vermilion; Congenital nonbullous ichthyosiform erythroderma; Paralysis) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationPresent

    4 FDA designations (4 FDA orphan-indication approvals) — e.g. trifarotene Source

  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)

82

Associated phenotypes · MONDO:0019306

  • Everted lower lip vermilion
  • Congenital nonbullous ichthyosiform erythroderma
  • Paralysis
  • Erythema
  • Short finger

Showing 5 of 82 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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)

4

Designations · 4 with FDA orphan-indication approval

  • FDA trifarotenecongenital ichthyosis · 2014-06-06 · Not FDA Approved for Orphan Indication
  • FDA isotretinoincongenital ichthyosis · 2014-04-10 · Not FDA Approved for Orphan Indication
  • FDA ureaErythroderma Epidermolytic hyperkeratosis Lamellar ichthyosis X-linked ichthyosis Harlequin Ichthyosis Child syndrome Netherton Syndrome Netherton Syndrome Neutral lipid storage disease Trichothiodystrophy Collodion Baby Kid syndrome · 2011-11-07 · Not FDA Approved for Orphan Indication
  • FDA liarozolecongenital ichthyosis · 2004-06-18 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0019306

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

5,828

5,828 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.

5,828 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).

2,912 in the last 10 years · medium confidence · 92th 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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th 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.

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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).

Uncertain / not reviewed (2)

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 Congenital ichthyosiform erythroderma — 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.

("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 "ALOX12B syndrome" OR "ALOX12B-related" OR "ALOXE3" OR "ALOXE3 syndrome" OR "ALOXE3-related")

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"

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: ok — strategies attempted: phrase; 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