ORPHA:158687
Lethal acantholytic erosive disorder
Publications
47
40.6th percentile
Trials
0
Interventional, condition-specific
Researchers
275
Distinct authors in sample
Gene link
DSP
Strong
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012323
- MeSH:C535493
- OMIM:609638
- UMLS:C1864826
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.”
2/6 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.
- Gene identifiedPresent
Strong — DSP
- LiteraturePresent
47 matched papers (25 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
47
47 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.
47 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).
25 in the last 10 years · medium confidence · 40.6th percentile (publications denominator)
Phrase hits: 46 · MeSH hits: 1
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.
- 01Green 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 - 02Bolling 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 - 03Chidgey 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 - 04Jonkman MF4 papers · 2010
Department of Dermatology, University Medical Centre Groningen, the Netherlands. m.f.jonkman@med.umcg.nl
Papers in Europe PMC - 05Al-Jassar C3 papers · 2020
School of Cancer Sciences, University of Birmingham, Birmingham, United Kingdom.
Papers in Europe PMC - 06Getsios S3 papers · 2015
Department of Dermatology, Northwestern University, Chicago, Illinois, USA
Papers in Europe PMC - 07Overduin 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 - 08Broussard JA2 papers · 2017
Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
Papers in Europe PMC - 09Elias 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 - 10Heliö 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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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.
"Lethal acantholytic erosive disorder" OR "lethal acantholytic epidermolysis bullosa"
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" OR "DSP"
Recall-expansion terms: DSP
Study-type breakdown: 0 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: 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