RARE DISEASERESEARCH ATLAS

ORPHA:228285

Acquired cutis laxa

high confidenceDisorder

Also known as: Cutis laxa acquisita

Publications

200

64.5th percentile

Trials

0

Interventional, condition-specific

Researchers

932

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder of the connective tissue characterized by skin inflammation inducing elastolysis, leading to sudden, fine skin wrinkling, and variable systemic involvement.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

acquired cutis laxa · cutis laxa acquisita

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    200 matched papers (89 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 3 for broader category cutis laxa

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

200

200 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.

200 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).

89 in the last 10 years · high confidence · 64.5th percentile (publications denominator)

Phrase hits: 200 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

932

Distinct author names in 200 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
    Davidson JM3 papers · 1996
    Papers in Europe PMC
  2. 02
    Jiang Y3 papers · 2023

    Department of Dermatopathology, Hospital for Skin Diseases and Institute of Dermatology, Chinese Academy of Medical Sciences & Peking Union Medical College, Nanjing, Jiangsu, China.

    Papers in Europe PMC
  3. 03
    Weiss AS3 papers · 2021

    Charles Perkins Centre, The University of Sydney, Sydney, NSW, Australia.

    Papers in Europe PMC
  4. 04
    Zhao Y3 papers · 2024

    Graduate College of Tianjin Medical University, No. 22 Qixiangtai Road, Heping District, Tianjin, 300070, China.

    Papers in Europe PMC
  5. 05
    Abenavoli L2 papers · 2019

    Institute of Internal Medicine, Catholic University, L.go Gemelli 8, 00168 Rome, Italy.

    Papers in Europe PMC
  6. 06
    Acosta-Jiménez E2 papers · 2026

    Division of Postgraduate Studies, Universidad Nacional Autónoma de México, Mexico City, Mexico; Pathology Department, Hospital de Especialidades Centro Médico Nacional "La Raza", Instituto Mexicano del Seguro Social, Mexico City, Mexico.

    Papers in Europe PMC
  7. 07
    Antiga E2 papers · 2023

    Section of Dermatology, Department of Health Sciences, University of Florence, Florence, Italy.

    Papers in Europe PMC
  8. 08
    Baldock C2 papers · 2021

    Wellcome Trust Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom.

    Papers in Europe PMC
  9. 09
    Beylot-Barry M2 papers · 2021

    Department of Dermatology, Hôpital Saint André, Bordeaux, France.

    Papers in Europe PMC
  10. 10
    Bladé J2 papers · 2021

    Amyloidosis and Multiple Myeloma Unit, Hospital Clínic, 08036 Barcelona, Spain.

    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). 3 trials are registered for cutis laxa, 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.

3 interventional trials matched cutis laxa, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: cutis laxa

3

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

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 2026-07-26

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.

"Acquired cutis laxa" OR "Cutis laxa acquisita"

Run this search on Europe PMC

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

"Acquired cutis laxa" OR "Cutis laxa acquisita"

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

Parent-category trials query:

"cutis laxa"

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

Ingested 2026-07-27T10:06:00.956Z