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ORPHA:137810

Nodular cutaneous amyloidosis

high confidenceDisorder

Also known as: PLCNA · Primary localized cutaneous nodular amyloidosis

Publications

426

70.1th percentile

Trials

0

Interventional, condition-specific

Researchers

1,023

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögren's syndrome and CREST syndrome.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

amyloidosis nodular localised cutaneous · amyloidosis nodular localized cutaneous · primary localised cutaneous nodular amyloidosis · primary localized cutaneous nodular amyloidosis

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

    426 matched papers (225 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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; 375 for broader category amyloidosis

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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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?

426

426 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=3967) is 59.

426 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).

225 in the last 10 years · high confidence · 70.1th percentile (publications denominator)

Phrase hits: 426 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,023

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
    Li Y4 papers · 2025

    Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.

    Papers in Europe PMC
  2. 02
    Schreml S3 papers · 2016

    Department of Dermatology, University Medical Center Regensburg, Regensburg, Germany.

    Papers in Europe PMC
  3. 03
    Wang X3 papers · 2026

    Department of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.

    Papers in Europe PMC
  4. 04
    Adelanwa A2 papers · 2022

    Department of Pathology, West Virginia University, Morgantown, WV.

    Papers in Europe PMC
  5. 05
    Aguh C2 papers · 2025

    Department of Dermatology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

    Papers in Europe PMC
  6. 06
    Bao A2 papers · 2025

    Department of Dermatology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

    Papers in Europe PMC
  7. 07
    Bennani A2 papers · 2026

    Anatomopathology, Faculty of Medicine and Pharmacy/Mohammed VI University Hospital, Oujda, MAR.

    Papers in Europe PMC
  8. 08
    Bohjanen S2 papers · 2024

    University of Minnesota

    Papers in Europe PMC
  9. 09
    Bordone LA2 papers · 2025

    Columbia University Irving Medical Center of Medicine, New York, New York.

    Papers in Europe PMC
  10. 10
    Borowicz J2 papers · 2011

    Largo Medical Center, Largo, FL, USA. drjflowers@hotmail.com

    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). 375 trials are registered for amyloidosis, 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.

high 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.

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

Broader category: amyloidosis

375

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 Nodular cutaneous amyloidosis — 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.

"Nodular cutaneous amyloidosis" OR "PLCNA" OR "Primary localized cutaneous nodular amyloidosis" OR "amyloidosis nodular localised cutaneous" OR "amyloidosis nodular localized cutaneous" OR "primary localised cutaneous nodular amyloidosis"

Run this search on Europe PMC

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

"Nodular cutaneous amyloidosis" OR "PLCNA" OR "Primary localized cutaneous nodular amyloidosis" OR "amyloidosis nodular localised cutaneous" OR "amyloidosis nodular localized cutaneous" OR "primary localised cutaneous nodular amyloidosis"

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

Parent-category trials query:

"amyloidosis"

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 2026-07-27T07:29:13.783Z