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ORPHA:263543

Generalized peeling skin syndrome

high confidenceDisorder

Also known as: Generalized deciduous skin · Generalized PSS

Publications

40

40.9th percentile

Trials

0

Interventional, condition-specific

Researchers

229

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A form of peeling skin syndrome characterized by a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial non-inflammatory peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.

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 (5)

generalised PSS · generalised deciduous skin · generalized PSS · generalized deciduous skin · peeling skin syndrome type 1

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    40 matched papers (30 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Increased total eosinophil count; Short stature; Increased circulating IgE concentration) 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?

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

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

Phenotypes (Monarch / HPO)

16

Associated phenotypes · MONDO:0010033

  • Increased total eosinophil count
  • Short stature
  • Increased circulating IgE concentration
  • Brittle hair
  • Asthma

Showing 5 of 16 — 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

40 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.

40 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).

30 in the last 10 years · high confidence · 40.9th percentile (publications denominator)

Phrase hits: 40 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

229

Distinct author names in 40 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
    Green KJ4 papers · 2018

    Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611 Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611.

    Papers in Europe PMC
  2. 02
    Jonca N3 papers · 2025

    Cell Biology and Cytology Laboratory, CNRS, Inserm, UPS, European Reference Network - Skin, University Hospital Center of Toulouse and Infinity, Federal Biology Institute, Toulouse University, Toulouse, France.

    Papers in Europe PMC
  3. 03
    Chen Y2 papers · 2025

    BGI-Shenzhen, Shenzhen 518083, China.

    Papers in Europe PMC
  4. 04
    Godsel LM2 papers · 2022

    Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

    Papers in Europe PMC
  5. 05
    Koetsier JL2 papers · 2022

    Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

    Papers in Europe PMC
  6. 06
    Li M2 papers · 2025

    Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.

    Papers in Europe PMC
  7. 07
    Mazereeuw-Hautier J2 papers · 2022

    Department of Dermatology, European Reference Network - Skin, University Hospital Center of Toulouse, Toulouse, France.

    Papers in Europe PMC
  8. 08
    Oji V2 papers · 2026

    Department of Dermatology, University Hospital Münster, Münster, 48149, Germany.

    Papers in Europe PMC
  9. 09
    Sarig O2 papers · 2018

    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

    Papers in Europe PMC
  10. 10
    Serre G2 papers · 2025

    UDEAR, INSERM, University of Toulouse, Toulouse, France.

    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.

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.

Broader category peeling skin 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: peeling skin 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 26 · after dedupe 26 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 26 · 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).

Uncertain / not reviewed (26)

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 Generalized peeling skin 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.

"Generalized peeling skin syndrome" OR "Generalized deciduous skin" OR "Generalized PSS" OR "generalised PSS" OR "generalised deciduous skin" OR "peeling skin syndrome type 1"

Run this search on Europe PMC

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

"Generalized peeling skin syndrome" OR "Generalized deciduous skin" OR "Generalized PSS" OR "generalised PSS" OR "generalised deciduous skin" OR "peeling skin syndrome type 1"

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

Parent-category trials query:

"peeling skin syndrome"

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 2026-07-27T11:23:44.353Z