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ORPHA:158687

Lethal acantholytic erosive disorder

medium confidenceDisorder

Publications

202

62.8th percentile

Trials

0

Interventional, condition-specific

Researchers

275

Distinct authors in sample

Gene link

DSP

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.

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 (2)

LAEB · lethal acantholytic epidermolysis bullosa

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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — DSP

  2. LiteraturePresent

    202 matched papers (144 in last 10 years) Source

  3. Phenotype characterisedPresent

    42 HPO annotations (e.g. Absent hair; Respiratory failure; Abnormal dermoepidermal hemidesmosome morphology) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (DSP).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

42

Associated phenotypes · MONDO:0012323

  • Absent hair
  • Respiratory failure
  • Abnormal dermoepidermal hemidesmosome morphology
  • Acantholysis
  • 3-4 finger osseus syndactyly

Showing 5 of 42 — 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?

202

202 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=3967) is 59.

202 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).

144 in the last 10 years · medium confidence · 62.8th percentile (publications denominator)

Phrase hits: 46 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

275

Distinct author names in 47 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
    Green KJ9 papers · 2024

    Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Ill; Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, Ill.

    Papers in Europe PMC
  2. 02
    Bolling MC4 papers · 2025

    Department of Dermatology, University Medical Center Groningen, Hanzeplein 1, 9713 GZ Groningen, the Netherlands. m.c.bolling@derm.umcg.nl

    Papers in Europe PMC
  3. 03
    Chidgey M4 papers · 2022

    Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, B15 2TT, UK. M.A.Chidgey@bham.ac.uk.

    Papers in Europe PMC
  4. 04
    Jonkman MF4 papers · 2010

    Department of Dermatology, University Medical Centre Groningen, the Netherlands. m.f.jonkman@med.umcg.nl

    Papers in Europe PMC
  5. 05
    Al-Jassar C3 papers · 2020

    School of Cancer Sciences, University of Birmingham, Birmingham, United Kingdom.

    Papers in Europe PMC
  6. 06
    Getsios S3 papers · 2015

    Department of Dermatology, Northwestern University, Chicago, Illinois, USA

    Papers in Europe PMC
  7. 07
    Overduin M3 papers · 2020

    Department of Biochemistry, Faculty of Medicine & Dentistry, 474 Medical Sciences Building, University of Alberta, Edmonton, Alberta, T6G 2H7, Canada.

    Papers in Europe PMC
  8. 08
    Broussard JA2 papers · 2017

    Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.

    Papers in Europe PMC
  9. 09
    Elias PM2 papers · 2016

    Dermatology Service, Veterans Affairs Medical Center, San Francisco, and the Department of Dermatology, University of California, San Francisco, Calif.

    Papers in Europe PMC
  10. 10
    Heliö K2 papers · 2022

    Heart and Lung Center, Helsinki University Hospital, University of Helsinki, Helsinki, Finland. krista.helio@helsinki.fi.

    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).

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.

medium 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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

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 Lethal acantholytic erosive disorder — 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.

("Lethal acantholytic erosive disorder" OR "lethal acantholytic epidermolysis bullosa") OR (MESH:"Epidermolysis bullosa, lethal acantholytic") OR ("DSP syndrome" OR "DSP-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Epidermolysis bullosa, lethal acantholytic

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

"Lethal acantholytic erosive disorder" OR "lethal acantholytic epidermolysis bullosa" OR "Epidermolysis bullosa, lethal acantholytic"

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

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LAEB

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 2026-07-27T08:07:31.231Z