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ORPHA:363665

Acroosteolysis-keloid-like lesions-premature aging syndrome

low confidenceDisorder

Also known as: Premature aging syndrome, Penttinen type

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

40,787

Trials

0

Interventional, condition-specific

Researchers

439

Distinct authors in sample

Gene link

PDGFRB

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

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)

premature ageing syndrome, Penttinen type · premature aging syndrome, Penttinen type

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

    Definitive — PDGFRB

  2. LiteraturePresent

    40,787 matched papers (27,007 in last 10 years) Source

  3. Phenotype characterisedPresent

    60 HPO annotations (e.g. Tibial bowing; Corneal opacity; Hypermyelinated retinal nerve fibers) 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 (PDGFRB).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

60

Associated phenotypes · MONDO:0011150

  • Tibial bowing
  • Corneal opacity
  • Hypermyelinated retinal nerve fibers
  • Global developmental delay
  • Joint contracture

Showing 5 of 60 — 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?

40,787

40,787 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.

40,787 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).

27,007 in the last 10 years · low confidence

Phrase hits: 51 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

439

Distinct author names in 51 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
    Bredrup C8 papers · 2026

    Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway.

    Papers in Europe PMC
  2. 02
    Demoulin JB7 papers · 2026

    De Duve Institute, Université Catholique de Louvain, Avenue Hippocrate 75, Box B1.74.05, 1200, Brussels, Belgium. jb.demoulin@uclouvain.be.

    Papers in Europe PMC
  3. 03
    Bruland O4 papers · 2025

    Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway.

    Papers in Europe PMC
  4. 04
    Gladkauskas T4 papers · 2026

    Department of Clinical Medicine, University of Bergen, Bergen, Norway.

    Papers in Europe PMC
  5. 05
    Rødahl E4 papers · 2025

    Department of Ophthalmology, Haukeland University Hospital, 5021, Bergen, Norway.

    Papers in Europe PMC
  6. 06
    Bardou M3 papers · 2026

    Service de Pharmacologie et Centre d'Investigation Clinique, Centre Hospitalier Universitaire de Dijon, Dijon, France.

    Papers in Europe PMC
  7. 07
    Baselga E3 papers · 2026

    Department of Dermatology, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.

    Papers in Europe PMC
  8. 08
    Cormier-Daire V3 papers · 2025

    INSERM UMR1163, Département de Génétique, Université Paris Descartes, Sorbonne Paris Cité and Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris 75006, France.

    Papers in Europe PMC
  9. 09
    Cristea I3 papers · 2025

    Department of Clinical Medicine, University of Bergen, 5020, Bergen, Norway.

    Papers in Europe PMC
  10. 10
    Dachy G3 papers · 2022

    De Duve Institute, Université Catholique de Louvain, Avenue Hippocrate 75, Box B1.74.05, 1200, Brussels, Belgium.

    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.

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.

Broader category premature aging syndrome also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: premature aging syndrome

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 Acroosteolysis-keloid-like lesions-premature aging syndrome — 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.

("Acroosteolysis-keloid-like lesions-premature aging syndrome" OR "Premature aging syndrome, Penttinen type" OR "premature ageing syndrome, Penttinen type") OR (MESH:"Penttinen-Aula syndrome") OR ("PDGFRB" OR "PDGFRB syndrome" OR "PDGFRB-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Penttinen-Aula syndrome

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

"Acroosteolysis-keloid-like lesions-premature aging syndrome" OR "Premature aging syndrome, Penttinen type" OR "premature ageing syndrome, Penttinen type" OR "Penttinen-Aula syndrome"

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

Parent-category trials query:

"premature aging syndrome"

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 (40787) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T14:40:59.092Z