ORPHA:89838
Autosomal recessive generalized epidermolysis bullosa simplex
Also known as: Autosomal recessive generalized EBS
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
6,599
Trials
0
Interventional, condition-specific
Researchers
16
Distinct authors in sample
Gene link
KRT14
Definitive
Readiness
4/6
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — KRT14
- LiteraturePresent
6,599 matched papers (5,032 in last 10 years) Source
- Phenotype characterisedPresent
26 HPO annotations (e.g. Abnormal dermoepidermal hemidesmosome morphology; Onychogryphosis; Stratum basale cleavage) 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; 18 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)
26
Associated phenotypes · MONDO:0010976
- Abnormal dermoepidermal hemidesmosome morphology
- Onychogryphosis
- Stratum basale cleavage
- Palmoplantar hyperkeratosis
- Atrophic scars
Showing 5 of 26 — 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?
6,599
6,599 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.
6,599 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).
5,032 in the last 10 years · low confidence
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). 18 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 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.
18 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
18
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
- NCT07756138·NOT YET RECRUITING·Filsuvez in Moderate-to-Severe Epidermolysis Bullosa Simplex
Conditions: Epidermolysis Bullosa Simplex·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
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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · 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 (6)
- ctis·2024-514352-32-00·Cancelled·GREEN A randomized, double-blind, multi-center, placebo-controlled, efficacity and safety study of glenzocimab used as an add-on therapy on top of mechanical thrombectomy for acute ischemic stroke
skipped — LLM skipped (--skip-llm)
- ctis·2023-508794-83-00·Authorised, ongoing·EBUL0. A 20-Week Multicentre, Open Study Assessing the Efficacy and Safety of Apremilast in Patients > 6 years of age with Epidermolysis bullosa simplex generalized
skipped — LLM skipped (--skip-llm)
- ctis·2023-508818-42-00·Authorised, ongoing·An International, Multicenter, Randomized, Double-Blind, Parallel Group, Vehicle-Controlled, Phase 2/3 Study with Open-Label Extension Evaluating the Efficacy and Safety of Diacerein 1% Ointment for the Treatment of Generalized Epidermolysis Bullosa Simplex (EBS) [EBShield Study]
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·2023-503545-67-00·Authorised, recruiting·A Multicenter, Open-Label, Study to Evaluate the Long-term Safety of Ecopipam Tablets in Children, Adolescents and Adults with Tourette’s Disorder
skipped — LLM skipped (--skip-llm)
- ctis·2023-503494-38-00·Cancelled·A Multicenter, Double-Blind, Placebo-Controlled, Randomized Withdrawal Study to Evaluate the Safety and Maintenance of Efficacy of Ecopipam in Children, Adolescents and Adults with Tourette’s Disorder
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 Autosomal recessive generalized epidermolysis bullosa simplex — 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.
("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 (MESH:"Epidermolysis Bullosa Simplex, Autosomal Recessive") OR ("KRT14" OR "KRT14 syndrome" OR "KRT14-related")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"
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; 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
- Publication count (6599) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T03:27:19.587Z