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ORPHA:353220

Familial primary localized cutaneous amyloidosis

high confidenceDisorder

Also known as: FPLCA

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

Publications

41

39.4th percentile

Trials

0

Interventional, condition-specific

Researchers

288

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare primary cutaneous amyloidosis characterized by familial occurrence of lichen and/or macular amyloidosis due to fibrillary degeneration and apoptosis of basal keratinocytes, followed by conversion of filamentous masses into amyloid material in the papillary dermis. Patients typically present with a pruritic eruption of grouped hyperkeratotic papules, which may coalesce to form hyperkeratotic plaques, with a predilection for the lower limbs (lichen amyloidosis), or with hyperpigmented macules, sometimes with a reticulate pattern, most commonly arising on the back, chest or interscapular areas (macular amyloidosis).

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 (1)

hereditary primary cutaneous 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

    41 matched papers (23 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; 369 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)

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?

41

41 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.

41 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).

23 in the last 10 years · high confidence · 39.4th percentile (publications denominator)

Phrase hits: 41 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

288

Distinct author names in 41 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
    McGrath JA6 papers · 2015
    Papers in Europe PMC
  2. 02
    Akiyama M4 papers · 2015

    From the Department of Dermatology, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama 359-8513, Japan and.

    Papers in Europe PMC
  3. 03
    Arita K4 papers · 2009

    Genetic Skin Disease Group, St. John's Institute of Dermatology, Division of Genetics and Molecular Medicine, The Guy's, King's College and St Thomas' School of Medicine, London SE1 9RT, UK.

    Papers in Europe PMC
  4. 04
    Anan T2 papers · 2018

    Sapporo Dermatopathology Institute, Kita-ku-kita 18 Jo-nishi 3-2-21, Sapporo, 001-0018, Japan.

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

    EMBL Rome, Monterotondo, Italy.

    Papers in Europe PMC
  6. 06
    Dhandapani R2 papers · 2019

    EMBL Rome, Monterotondo, Italy.

    Papers in Europe PMC
  7. 07
    Fujiwara S2 papers · 2018

    Department of Dermatology, Faculty of Medicine, Oita University, 1-1 Idaigaoka, Hasama-machi, Yufu, 879-5593, Japan.

    Papers in Europe PMC
  8. 08
    Hans NR2 papers · 2009
    Papers in Europe PMC
  9. 09
    Hans-Filho G2 papers · 2009
    Papers in Europe PMC
  10. 10
    Hans-Neto G2 papers · 2009
    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). 369 trials are registered for amyloidosis, 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.

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

Broader category: amyloidosis

369

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.

"Familial primary localized cutaneous amyloidosis" OR "FPLCA" OR "hereditary primary cutaneous amyloidosis"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: amyloidosis IX

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

"Familial primary localized cutaneous amyloidosis" OR "FPLCA" OR "hereditary primary cutaneous amyloidosis" OR "amyloidosis IX"

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

Parent-category trials query:

"amyloidosis"

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

Ingested 2026-07-27T14:23:09.313Z