ORPHA:263548
Peeling skin syndrome type A
Also known as: Generalized peeling skin syndrome type A · Non-inflammatory generalized peeling skin syndrome type A. · Non-inflammatory peeling skin syndrome type A · PSS type A
Publications
465
75.2th percentile
Trials
0
Interventional, condition-specific
Researchers
895
Distinct authors in sample
Gene link
CHST8
Limited
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A noninflammatory form of generalized PSS characterized by white scaling and superficial painless peeling of the skin.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014555
- OMIM:616265
- UMLS:C4015729
Additional Mondo synonyms (8)
generalised deciduous skin type A · generalised peeling skin syndrome type A · generalized deciduous skin type A · generalized peeling skin syndrome type A · non-inflammatory generalised peeling skin syndrome type A. · non-inflammatory generalized peeling skin syndrome type A. · non-inflammatory peeling skin syndrome type A · peeling skin syndrome type 3
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.
- Gene identifiedPresent
Limited — CHST8
- LiteraturePresent
465 matched papers (295 in last 10 years) Source
- Phenotype characterisedPresent
4 HPO annotations (e.g. White scaling skin; Abnormal hair morphology; Pruritus) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Possibly — only limited evidence so far for CHST8.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
4
Associated phenotypes · MONDO:0014555
- White scaling skin
- Abnormal hair morphology
- Pruritus
- Erythema
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?
465
465 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.
465 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).
295 in the last 10 years · medium confidence · 75.2th percentile (publications denominator)
Phrase hits: 142 · MeSH hits: 0
Who's working on it?
895
Distinct author names in 142 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.
- 01Jonca N5 papers · 2025
Différenciation Epidermique et Autoimmunité Rhumatoïde, Centre National de la Recherche Scientifique UMR5165/Institut National de la Recherche Médicale U1056/Université Toulouse III, Hôpital Purpan, Toulouse, France.
Papers in Europe PMC - 02Li M5 papers · 2025
Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 03Liu L4 papers · 2024
Department of Rheumatology, The Second Affiliated Hospital of Zhejiang University School of Medicine, No.88 Jiefang Road, Hangzhou, 310009, China.
Papers in Europe PMC - 04Mazereeuw-Hautier J4 papers · 2022
Dermatology Department, Reference Center for Rare Skin Diseases, Toulouse, France.
Papers in Europe PMC - 05Oji V4 papers · 2026
Department of Dermatology, University Hospital Münster, 48149 Münster, Germany.
Papers in Europe PMC - 06
- 07Traupe H4 papers · 2026
Department of Dermatology, University Hospital of Münster, Münster, Germany.
Papers in Europe PMC - 08Versnel MA4 papers · 2023
Department of Immunology, Erasmus Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands.
Papers in Europe PMC - 09Bergman R3 papers · 2018
Department of Dermatology, Rambam Health Care Campus, Haifa, Israel.
Papers in Europe PMC - 10Igawa S3 papers · 2021
Department of Dermatology, School of Medicine, University of California San Diego, San Diego, California, USA; Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan.
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.
medium 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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)
- isrctn·ISRCTN72661732·Recruiting·A Study of Teclistamab in Combination with Daratumumab and Lenalidomide (Tec-DR) and Talquetamab in Combination with Daratumumab and Lenalidomide (Tal-DR) in Participants with Newly Diagnosed Multiple Myeloma
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN71987471·No longer recruiting·Corticosteroids plus standard of care treatment versus standard of care treatment alone to prevent heart complications in Kawasaki disease
skipped — LLM skipped (--skip-llm)
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 A — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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 A" OR "Generalized peeling skin syndrome type A" OR "Non-inflammatory generalized peeling skin syndrome type A." OR "Non-inflammatory peeling skin syndrome type A" OR "PSS type A" OR "generalised deciduous skin type A" OR "generalised peeling skin syndrome type A" OR "generalized deciduous skin type A" OR "non-inflammatory generalised peeling skin syndrome type A." OR "peeling skin syndrome type 3") OR ("CHST8" OR "CHST8 syndrome" OR "CHST8-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Peeling skin syndrome type A" OR "Generalized peeling skin syndrome type A" OR "Non-inflammatory generalized peeling skin syndrome type A." OR "Non-inflammatory peeling skin syndrome type A" OR "PSS type A" OR "generalised deciduous skin type A" OR "generalised peeling skin syndrome type A" OR "generalized deciduous skin type A" OR "non-inflammatory generalised peeling skin syndrome type A." OR "peeling skin syndrome type 3"
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
- Publication count (465) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T11:24:06.587Z