ORPHA:263534
Acral peeling skin syndrome
Also known as: Acral PSS · Localized PSS · PSS 2 · Peeling skin syndrome 2
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
1,134
Trials
0
Interventional, condition-specific
Researchers
1,199
Distinct authors in sample
Gene link
TGM5
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.
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:0012345
- MeSH:C536316
- OMIM:609796
- UMLS:C1853354
Additional Mondo synonyms (8)
acral PSS · acral deciduous skin · acral peeling skin syndrome · localised PSS · localised deciduous skin · localized PSS · localized deciduous skin · peeling skin syndrome type 2
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — TGM5
- LiteraturePresent
1,134 matched papers (831 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (TGM5).
GenCC classification: Definitive.
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?
1,134
1,134 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=5449) is 41.
1,134 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).
831 in the last 10 years · low confidence
Phrase hits: 1,134 · MeSH hits: 0
Who's working on it?
1,199
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.
- 01Has C6 papers · 2026
Department of Dermatology and Venerology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Hauptstrasse 7, DE-79104, Freiburg, Germany.
Papers in Europe PMC - 02Jonkman MF4 papers · 2020
Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Papers in Europe PMC - 03Liu J4 papers · 2024
School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China.
Papers in Europe PMC - 04Ma R4 papers · 2025
Department of Mucinous Tumor, Aerospace Center Hospital, Beijing, China.
Papers in Europe PMC - 05McGrath JA4 papers · 2015Papers in Europe PMC
- 06van Geel M4 papers · 2020
Department of Dermatology, Maastricht University Medical Center+, Maastricht, The Netherlands.
Papers in Europe PMC - 07Bruckner-Tuderman L3 papers · 2013
Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany; Freiburg Institute for Advanced Studies, School of Life Sciences-LifeNet, University of Freiburg, Freiburg, Germany.
Papers in Europe PMC - 08Kiritsi D3 papers · 2017
Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany.
Papers in Europe PMC - 09Li Y3 papers · 2025
Department of Blood Transfusion, Aerospace Center Hospital, Beijing, China.
Papers in Europe PMC - 10Liu H3 papers · 2026
China Animal Disease Control Center, Beijing 100020, PR China.
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 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.
low 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.
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.
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 2026-07-26This 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.
"Acral peeling skin syndrome" OR "Acral PSS" OR "Localized PSS" OR "PSS 2" OR "Peeling skin syndrome 2" OR "acral deciduous skin" OR "localised PSS" OR "localised deciduous skin" OR "localized deciduous skin" OR "peeling skin syndrome type 2"
MeSH descriptor terms unioned into the query: Peeling skin syndrome, acral type
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acral peeling skin syndrome" OR "Acral PSS" OR "Localized PSS" OR "PSS 2" OR "Peeling skin syndrome 2" OR "acral deciduous skin" OR "localised PSS" OR "localised deciduous skin" OR "localized deciduous skin" OR "peeling skin syndrome type 2" OR "Peeling skin syndrome, acral type" OR "TGM5"
Recall-expansion terms: TGM5
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: suspect — strategies attempted: phrase, mesh, recall-expansion; 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 (1134) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T11:23:37.640Z