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ORPHA:281139

Annular epidermolytic ichthyosis

medium confidenceDisorder

Also known as: AEI

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

30

37.8th percentile

Trials

0

Interventional, condition-specific

Researchers

174

Distinct authors in sample

Gene link

KRT1, KRT10

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.

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 (1)

ichthyosis, annular epidermolytic

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — KRT1, KRT10

  2. LiteraturePresent

    30 matched papers (21 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 trialPartial

    None under the specific name; 3 for broader category epidermolytic ichthyosis

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, KRT10).

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?

30

30 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.

30 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).

21 in the last 10 years · medium confidence · 37.8th percentile (publications denominator)

Phrase hits: 30 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

174

Distinct author names in 30 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
    Akiyama M3 papers · 2020

    Division of Dermatology, Kitasato Institute Hospital, Tokyo, Japan. akiyama@mc.med.keio.ac.jp

    Papers in Europe PMC
  2. 02
    Metze D3 papers · 2026

    Department of Dermatology, University Hospital of Münster (European Reference Network for Rare Skin Diseases (ERN Skin)), 48149 Münster, Germany.

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

    Department of Dermatology, University Hospital of Münster (European Reference Network for Rare Skin Diseases (ERN Skin)), 48149 Münster, Germany.

    Papers in Europe PMC
  4. 04
    Anker P2 papers · 2023

    Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1083 Budapest, Hungary.

    Papers in Europe PMC
  5. 05
    Kiss N2 papers · 2023

    Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1083 Budapest, Hungary.

    Papers in Europe PMC
  6. 06
    Medvecz M2 papers · 2023

    Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1083 Budapest, Hungary.

    Papers in Europe PMC
  7. 07
    Roop DR2 papers · 1998
    Papers in Europe PMC
  8. 08
    Schmuth M2 papers · 2026

    Department of Dermatology and Venereology, Innsbruck Medical University, Innsbruck, Austria. matthias.schmuth@i-med.ac.at

    Papers in Europe PMC
  9. 09
    Suga Y2 papers · 2020

    Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030, USA.

    Papers in Europe PMC
  10. 10
    Abdelhak S1 paper · 2021

    University Tunis El Manar, Institut Pasteur de Tunis, Biomedical Genomics and Oncogenetics Laboratory, LR20IPT05, Tunis, Tunisia.

    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). 3 trials are registered for epidermolytic ichthyosis, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

3 interventional trials matched epidermolytic ichthyosis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: epidermolytic ichthyosis

3

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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.

"Annular epidermolytic ichthyosis" OR "ichthyosis, annular epidermolytic"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

"Annular epidermolytic ichthyosis" OR "ichthyosis, annular epidermolytic" OR "Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis" OR "KRT1" OR "KRT10" OR "autosomal dominant epidermolytic ichthyosis"

Recall-expansion terms: KRT1, KRT10, autosomal dominant epidermolytic ichthyosis

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

Parent-category trials query:

"epidermolytic ichthyosis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: AEI

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 2026-07-27T11:59:34.534Z