ORPHA:281139
Annular epidermolytic ichthyosis
Also known as: AEI
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
12,433
Trials
0
Interventional, condition-specific
Researchers
174
Distinct authors in sample
Gene link
KRT1, KRT10
Definitive
Readiness
4/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011870
- MeSH:C564367
- UMLS:C1843463
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — KRT1, KRT10
- LiteraturePresent
12,433 matched papers (8,146 in last 10 years) Source
- Phenotype characterisedPresent
21 HPO annotations (e.g. Erythematous plaque; Abnormal hair morphology; Abnormal nail morphology) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
21
Associated phenotypes · MONDO:0011870
- Erythematous plaque
- Abnormal hair morphology
- Abnormal nail morphology
- Erythema
- Orthokeratosis
Showing 5 of 21 — 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?
12,433
12,433 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.
12,433 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).
8,146 in the last 10 years · low confidence
Phrase hits: 30 · MeSH hits: 0
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.
- 01Akiyama M3 papers · 2020
Division of Dermatology, Kitasato Institute Hospital, Tokyo, Japan. akiyama@mc.med.keio.ac.jp
Papers in Europe PMC - 02Metze 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 - 03Traupe 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 - 04Anker P2 papers · 2023
Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1083 Budapest, Hungary.
Papers in Europe PMC - 05Kiss N2 papers · 2023
Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1083 Budapest, Hungary.
Papers in Europe PMC - 06Medvecz M2 papers · 2023
Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1083 Budapest, Hungary.
Papers in Europe PMC - 07Roop DR2 papers · 1998Papers in Europe PMC
- 08Schmuth M2 papers · 2026
Department of Dermatology and Venereology, Innsbruck Medical University, Innsbruck, Austria. matthias.schmuth@i-med.ac.at
Papers in Europe PMC - 09Suga Y2 papers · 2020
Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030, USA.
Papers in Europe PMC - 10Abdelhak 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 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.
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
- NCT06545695·NOT YET RECRUITING·Epidermal Growth Factor Receptor Inhibition for Keratinopathies
Conditions: Epidermolytic Ichthyosis · Palmoplantar Keratoderma · Pachyonychia Congenita·Matched via name phrase
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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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 (5)
- ctis·2025-521973-16-00·Authorised, ongoing·A PHASE 1/1B STUDY TO EVALUATE THE SAFETY, TOLERABILITY, PHARMACOKINETICS, AND IMMUNOGENICITY OF SINGLE AND MULTIPLE ASCENDING DOSES OF BCX17725 IN HEALTHY PARTICIPANTS AND MULTIPLE DOSES OF BCX17725 IN PARTICIPANTS WITH NETHERTON SYNDROME
skipped — LLM skipped (--skip-llm)
- ctis·2023-505570-15-00·Authorised, ongoing·Phase 2 study evaluating the efficacy of injectable gentamicin in hereditary ichthyosis - GENTIC
skipped — LLM skipped (--skip-llm)
- ctis·2023-507743-11-00·Cancelled·A phase I/II, multicenter, randomized, double-blind, placebo within-patient controlled, first-in-human (FIH) Proof of Concept (PoC) study to evaluate the safety and efficacy of topically applied SXR1096 cream in patients with Netherton syndrome (NS)
skipped — LLM skipped (--skip-llm)
- ctis·2022-502879-32-00·Authorised, ongoing·GENEPID: A 44-weeks monocentric open study assessing the efficacy and safety of Deucravacitinib in adults with Inflammatory EPidermal GENodermatoses (epidermolysis bullosa simplex and inflammatory congenital ichthyoses)
skipped — LLM skipped (--skip-llm)
- ctis·2022-501104-10-00·Cancelled·Evasayil TM: A placebo-controlled trial to evaluate the efficacy and safety of spesolimab in the treatment of patients with Netherton syndrome
skipped — LLM skipped (--skip-llm)
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 Annular epidermolytic ichthyosis — check Associations / patient organisations on that page.
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.
("Annular epidermolytic ichthyosis" OR "ichthyosis, annular epidermolytic") OR (MESH:"Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis") OR ("KRT1" OR "KRT1 syndrome" OR "KRT1-related" OR "KRT10" OR "KRT10 syndrome" OR "KRT10-related")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"
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; 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
- Publication count (12433) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T11:59:34.534Z