RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:263553

Peeling skin syndrome type B

low confidenceSubtype of disorder

Also known as: Generalized peeling skin disease type B · Generalized peeling skin syndrome type B · Inflammatory peeling skin disease · Inflammatory peeling skin syndrome · PSS type B · PSS1 · Peeling skin syndrome 1

Publications

1,164

Trials

0

Interventional, condition-specific

Researchers

480

Distinct authors in sample

Gene link

CDSN

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of generalized peeling skin syndrome (PSS) 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 (9)

CDSN peeling skin syndrome · generalised deciduous skin type B · generalised peeling skin syndrome type B · generalized deciduous skin type B · generalized peeling skin syndrome type B · inflammatory peeling skin syndrome · peeling skin syndrome 1 · peeling skin syndrome caused by mutation in CDSN · peeling skin syndrome type B

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

    Strong — CDSN

  2. LiteraturePresent

    1,164 matched papers (778 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 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?

Yes — we know a specific gene responsible (CDSN).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

12

Associated phenotypes · MONDO:0024548

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

Showing 5 of 12 — 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?

1,164

1,164 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,164 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).

778 in the last 10 years · low confidence

Phrase hits: 65 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

480

Distinct author names in 65 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
    Ishida-Yamamoto A4 papers · 2018

    Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan.

    Papers in Europe PMC
  2. 02
    Oji V4 papers · 2026

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

    Papers in Europe PMC
  3. 03
    Sprecher E4 papers · 2014

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

    Papers in Europe PMC
  4. 04
    Traupe H4 papers · 2026

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

    Papers in Europe PMC
  5. 05
    Bergman R3 papers · 2013

    Department of Dermatology, Rambam Health Care Campus, Haifa, Israel.

    Papers in Europe PMC
  6. 06
    Cancrini C3 papers · 2023

    Academic Department of Pediatrics (DPUO), Research Unit of Clinical Immunology and Vaccinology, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.

    Papers in Europe PMC
  7. 07
    Honma M3 papers · 2018

    Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan.

    Papers in Europe PMC
  8. 08
    Igawa S3 papers · 2018

    Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan. Electronic address: igasato@asahikawa-med.ac.jp.

    Papers in Europe PMC
  9. 09
    Kishibe M3 papers · 2018

    Department of Dermatology, Asahikawa Medical University, Japan.

    Papers in Europe PMC
  10. 10
    Li M3 papers · 2022

    Institut de Génétique et de Biologie Moléculaire et Cellulaire CNRS UMR7104-INSERM U964-UDS, Illkirch, France. Institute for Advanced Study, University of Strasbourg, Strasbourg, France. Freiburg Institute for Advanced Studies, Albert-Ludwigs-Universität Freiburg, Freiburg, Germany. Institut de Génétique et de Biologie Moléculaire et Cellulaire CNRS UMR7104-INSERM U964-UDS, Illkirch, France. Institute for Advanced Study, University of Strasbourg, Strasbourg, France. Freiburg Institute for Advanced Studies, Albert-Ludwigs-Universität Freiburg, Freiburg, Germany. Institut de Génétique et de Biologie Moléculaire et Cellulaire CNRS UMR7104-INSERM U964-UDS, Illkirch, France. Institute for Advanced Study, University of Strasbourg, Strasbourg, France. Freiburg Institute for Advanced Studies, Albert-Ludwigs-Universität Freiburg, Freiburg, Germany. mei@igbmc.fr.

    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 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Peeling skin syndrome type B — 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.

("Peeling skin syndrome type B" OR "Generalized peeling skin disease type B" OR "Generalized peeling skin syndrome type B" OR "Inflammatory peeling skin disease" OR "Inflammatory peeling skin syndrome" OR "PSS type B" OR "Peeling skin syndrome 1" OR "CDSN peeling skin syndrome" OR "generalised deciduous skin type B" OR "generalised peeling skin syndrome type B" OR "generalized deciduous skin type B" OR "peeling skin syndrome caused by mutation in CDSN") OR ("CDSN" OR "CDSN syndrome" OR "CDSN-related")

Run this search on Europe PMC

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

"Peeling skin syndrome type B" OR "Generalized peeling skin disease type B" OR "Generalized peeling skin syndrome type B" OR "Inflammatory peeling skin disease" OR "Inflammatory peeling skin syndrome" OR "PSS type B" OR "Peeling skin syndrome 1" OR "CDSN peeling skin syndrome" OR "generalised deciduous skin type B" OR "generalised peeling skin syndrome type B" OR "generalized deciduous skin type B" OR "peeling skin syndrome caused by mutation in CDSN"

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

Synonyms dropped by stoplist: PSS1

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1164) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T11:24:16.729Z