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ORPHA:508529

Intermediate epidermolysis bullosa simplex with cardiomyopathy

low confidenceDisorder

Also known as: Intermediate EBS with cardiomyopathy

Publications

523

Trials

0

Interventional, condition-specific

Researchers

31

Distinct authors in sample

Gene link

KLHL24

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes, above the hemidesmosomes.

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 (6)

EBSSH · epidermolysis bullosa simplex 6, generalized, with scarring and hair loss · epidermolysis bullosa simplex, generalized, with scarring and hair loss · epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH · generalised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss · generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss

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.

  1. Gene identifiedPresent

    Strong — KLHL24

  2. LiteraturePresent

    523 matched papers (428 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Alopecia; Dystrophic toenail; Abnormal blistering of the skin) 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 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 (KLHL24).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

10

Associated phenotypes · MONDO:0015006

  • Alopecia
  • Dystrophic toenail
  • Abnormal blistering of the skin
  • Alopecia of scalp
  • Dermal atrophy

Showing 5 of 10 — 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?

523

523 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=3967) is 59.

523 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).

428 in the last 10 years · low confidence

Phrase hits: 6 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

31

Distinct author names in 6 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
    Cypess AM2 papers · 2011

    Research Division, Joslin Diabetes Center, Department of Medicine, Harvard Medical School, Boston, Massachusetts 02215, USA. aaron.cypess@joslin.harvard.edu

    Papers in Europe PMC
  2. 02
    Peterson FC2 papers · 2007
    Papers in Europe PMC
  3. 03
    Volkman BF2 papers · 2007
    Papers in Europe PMC
  4. 04
    Albertini DF1 paper · 1984
    Papers in Europe PMC
  5. 05
    Beilin AK1 paper · 2021

    Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova 1, 117997 Moscow, Russia.

    Papers in Europe PMC
  6. 06
    de la Cruz N1 paper · 2007
    Papers in Europe PMC
  7. 07
    Elgin ES1 paper · 2007
    Papers in Europe PMC
  8. 08
    Espinoza DO1 paper · 2011
    Papers in Europe PMC
  9. 09
    Evtushenko NA1 paper · 2021

    Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova 1, 117997 Moscow, Russia.

    Papers in Europe PMC
  10. 10
    Gurskaya NG1 paper · 2021

    Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova 1, 117997 Moscow, Russia.

    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

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 Intermediate epidermolysis bullosa simplex with cardiomyopathy — 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.

("Intermediate epidermolysis bullosa simplex with cardiomyopathy" OR "Intermediate EBS with cardiomyopathy" OR "EBSSH" OR "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss" OR "epidermolysis bullosa simplex, generalized, with scarring and hair loss" OR "epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH" OR "generalised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss" OR "generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss") OR ("KLHL24" OR "KLHL24 syndrome" OR "KLHL24-related")

Run this search on Europe PMC

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

"Intermediate epidermolysis bullosa simplex with cardiomyopathy" OR "Intermediate EBS with cardiomyopathy" OR "EBSSH" OR "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss" OR "epidermolysis bullosa simplex, generalized, with scarring and hair loss" OR "epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH" OR "generalised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss" OR "generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss"

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: ok — strategies attempted: phrase; 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 (523) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T17:57:08.784Z