ORPHA:89838
Autosomal recessive generalized epidermolysis bullosa simplex
Also known as: Autosomal recessive generalized EBS
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
3
12.1th percentile
Trials
0
Interventional, condition-specific
Researchers
16
Distinct authors in sample
Gene link
KRT14
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, inherited, epidermolysis bullosa simplex characterized by onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation.
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:0010976
- MeSH:C563408
- OMIM:601001
- UMLS:C3715082
Additional Mondo synonyms (7)
EBS, autosomal recessive K14 · EBS-AR KRT14 · KRT14-related autosomal recessive EBS · KRT14-related autosomal recessive epidermolysis bullosa simplex · KRT14-related epidermolysis bullosa simplex · epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive · epidermolysis bullosa simplex, autosomal recessive type 1
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.
- Gene identifiedPresent
Definitive — KRT14
- LiteraturePresent
3 matched papers (2 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 trialPartial
None under the specific name; 17 for broader category epidermolysis bullosa simplex
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 (KRT14).
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
3 papers have ever been indexed 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.
3 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).
2 in the last 10 years · high confidence · 12.1th percentile (publications denominator)
Phrase hits: 3 · MeSH hits: 0
Who's working on it?
16
Distinct author names in 3 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.
- 01Boull C1 paper · 2022
Department of Dermatology, Division of Pediatric Dermatology, University of Minnesota, Minneapolis, MN 55455, USA.
Papers in Europe PMC - 02Charlesworth A1 paper · 2016
Reference Centre for Hereditary Epidermolysis Bullosa, University Hospital of Nice, Nice, France.
Papers in Europe PMC - 03Chiaverini C1 paper · 2016
Department of Dermatology, University Hospital of Nice, 151 route de Saint Antoine de Ginestière, Hôpital Archet 2, 06200, Nice, France.
Papers in Europe PMC - 04Ebens CL1 paper · 2022
Department of Pediatrics, Division of Blood and Marrow Transplantation & Cellular Therapy, University of Minnesota, Minneapolis, MN 55455, USA.
Papers in Europe PMC - 05Hofstra RMW1 paper · 2018
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
Papers in Europe PMC - 06Joenje H1 paper · 2018
Department of Clinical Genetics and the Cancer Center Amsterdam/VUmc Institute for Cancer and Immunology, VU University Medical Center, Amsterdam, the Netherlands.
Papers in Europe PMC - 07Jonkman MF1 paper · 2018
University of Groningen, University Medical Center Groningen, Department of Dermatology, Groningen, the Netherlands.
Papers in Europe PMC - 08Lacour JP1 paper · 2016
Department of Dermatology, University Hospital of Nice, 151 route de Saint Antoine de Ginestière, Hôpital Archet 2, 06200, Nice, France.
Papers in Europe PMC - 09Meyer-Mueller C1 paper · 2022
Medical School, University of Minnesota, Minneapolis, MN 55455, USA.
Papers in Europe PMC - 10Montaudié H1 paper · 2016
Department of Dermatology, University Hospital of Nice, 151 route de Saint Antoine de Ginestière, Hôpital Archet 2, 06200, Nice, France. montaudie.h@chu-nice.fr.
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). 17 trials are registered for epidermolysis bullosa simplex, 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.
high 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.
17 interventional trials matched epidermolysis bullosa simplex, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: epidermolysis bullosa simplex
17
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
- NCT07027345·RECRUITING·A Phase II, Placebo Controlled, Clinical Trial of Topical TolaSure Targeting Aggregated Mutant Keratin in Epidermolysis Bullosa Simplex
Conditions: Epidermolysis Bullosa Simplex·Matched via name phrase
- NCT06509984·RECRUITING·A 20-Week Study Assessing the Efficacy of Apremilast in Patients with EB Simplex Generalized
Conditions: Epidermolysis Bullosa Simplex · Genodermatosis·Matched via name phrase
- NCT06136403·RECRUITING·A 44-week Monocentric Open Study Assessing the Efficacy and Safety of Deucravacitinib in Adults With Inflammatory Genodermatoses
Conditions: Epidermolysis Bullosa Simplex · Ichthyosis · Genodermatosis · Inflammatory Congenital Ichthyoses·Matched via name phrase
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.
"Autosomal recessive generalized epidermolysis bullosa simplex" OR "Autosomal recessive generalized EBS" OR "EBS, autosomal recessive K14" OR "EBS-AR KRT14" OR "KRT14-related autosomal recessive EBS" OR "KRT14-related autosomal recessive epidermolysis bullosa simplex" OR "KRT14-related epidermolysis bullosa simplex" OR "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive" OR "epidermolysis bullosa simplex, autosomal recessive type 1"
MeSH descriptor terms unioned into the query: Epidermolysis Bullosa Simplex, Autosomal Recessive
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive generalized epidermolysis bullosa simplex" OR "Autosomal recessive generalized EBS" OR "EBS, autosomal recessive K14" OR "EBS-AR KRT14" OR "KRT14-related autosomal recessive EBS" OR "KRT14-related autosomal recessive epidermolysis bullosa simplex" OR "KRT14-related epidermolysis bullosa simplex" OR "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive" OR "epidermolysis bullosa simplex, autosomal recessive type 1" OR "Epidermolysis Bullosa Simplex, Autosomal Recessive" OR "KRT14"
Recall-expansion terms: KRT14
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"epidermolysis bullosa simplex"
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T03:27:19.587Z