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ORPHA:88621

Ichthyosis-prematurity syndrome

low confidenceDisorder

Also known as: Congenital ichthyosis type 4 · IPS

Publications

3,874

Trials

2

Interventional, condition-specific

Researchers

1,631

Distinct authors in sample

Gene link

SLC27A4

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, syndromic ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.

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 (3)

congenital ichthyosis type 4 · ichthyosis prematurity syndrome · idiopathic pneumonia syndrome

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

    Definitive — SLC27A4

  2. LiteraturePresent

    3,874 matched papers (1,914 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

    2 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 (SLC27A4).

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?

3,874

3,874 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.

3,874 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).

1,914 in the last 10 years · low confidence

Phrase hits: 3,874 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

1,631

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
    Bergeron A8 papers · 2026

    Pneumology Department, Geneva University Hospitals, University of Geneva, Geneva, Switzerland.

    Papers in Europe PMC
  2. 02
    Khnykin D7 papers · 2021

    Department of Pathology and Centre of Immune Regulation, Oslo University Hospital-Rikshospitalet and University of Oslo, Oslo, Norway.

    Papers in Europe PMC
  3. 03
    Shanthikumar S6 papers · 2026

    Respiratory and Sleep Medicine, Royal Children's Hospital, Melbourne, Australia; Respiratory Diseases, Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia. Electronic address: shivanthan.shanthikumar@rch.org.au.

    Papers in Europe PMC
  4. 04
    Berra G5 papers · 2026

    Latner Thoracic Research Laboratories, Toronto General Hospital Research Institute, Toronto, Ontario, Canada; Toronto Lung Transplant Program, Ajmera Transplant Centre, University Health Network, Toronto, Ontario, Canada; Service de Pneumologie, Département de Médecine, Hôpitaux Universitaires de Genève, Geneva, Switzerland.

    Papers in Europe PMC
  5. 05
    Chen Y5 papers · 2026

    Department of Haematology Singapore General Hospital Singapore Singapore.

    Papers in Europe PMC
  6. 06
    Fischer J5 papers · 2022

    Institute of Human Genetics, University Medical Centre, Freiburg, Germany.

    Papers in Europe PMC
  7. 07
    Bos S4 papers · 2026

    Division of Lung Transplantation, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.

    Papers in Europe PMC
  8. 08
    Cheng GS4 papers · 2025

    Department of Medicine, University of Washington, 1959 NE Pacific St, Seattle, WA, 98195, USA.

    Papers in Europe PMC
  9. 09
    Cheng PC4 papers · 2026

    Division of Pediatric Pulmonology, Allergy, and Sleep Medicine, Riley Hospital for Children, Indianapolis, IN, USA; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.

    Papers in Europe PMC
  10. 10
    Davies SM4 papers · 2026

    Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

low confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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.

"Ichthyosis-prematurity syndrome" OR "Congenital ichthyosis type 4" OR "ichthyosis prematurity syndrome" OR "idiopathic pneumonia syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Ichthyosis prematurity syndrome

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

"Ichthyosis-prematurity syndrome" OR "Congenital ichthyosis type 4" OR "ichthyosis prematurity syndrome" OR "idiopathic pneumonia syndrome" OR "SLC27A4"

Recall-expansion terms: SLC27A4

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: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: IPS

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 (3874) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T03:22:45.782Z