ORPHA:50943
Keratolytic winter erythema
Also known as: Erythrokeratolysis hiemalis · Oudtshoorn disease
Publications
8,097
Trials
0
Interventional, condition-specific
Researchers
892
Distinct authors in sample
Gene link
CTSB
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an mode of transmission.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007854
- MeSH:C536155
- OMIM:148370
- UMLS:C0406756
Additional Mondo synonyms (1)
keratolytic winter erythema
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
Strong — CTSB
- LiteraturePresent
8,097 matched papers (6,597 in last 10 years) Source
- Phenotype characterisedPresent
6 HPO annotations (e.g. Palmoplantar peeling; Palmoplantar hyperhidrosis; Erythema) 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?
Yes — we know a specific gene responsible (CTSB).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
6
Associated phenotypes · MONDO:0007854
- Palmoplantar peeling
- Palmoplantar hyperhidrosis
- Erythema
- Hyperhidrosis
Showing 4 of 6 — 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?
8,097
8,097 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
8,097 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).
6,597 in the last 10 years · low confidence
Phrase hits: 145 · MeSH hits: 1
Who's working on it?
892
Distinct author names in 145 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.
- 01Hull PR6 papers · 2017
Division of Clinical Dermatology and Cutaneous Science, Dalhousie University, Halifax, NS B3H 1V7, Canada.
Papers in Europe PMC - 02Ramsay M6 papers · 2019
Division of Human Genetics, School of Pathology and the Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa. Electronic address: michele.ramsay@wits.ac.za.
Papers in Europe PMC - 03Liu Y4 papers · 2026
Research Center for Tissue Repair and Regeneration Affiliated to Medical Innovation Research Department and 4th Medical Center, PLA General Hospital and PLA Medical College; PLA Key Laboratory of Tissue Repair and Regenerative Medicine and Beijing Key Research Laboratory of Skin Injury, Repair and Regeneration; Research Unit of Trauma Care, Tissue Repair and Regeneration, Chinese Academy of Medical Sciences, 2019RU051, Beijing, 100048, P. R. China.
Papers in Europe PMC - 04Findlay GH3 papers · 1983Papers in Europe PMC
- 05Grayson W3 papers · 2019
School of Pathology, Faculty of Health Sciences, University of the Witwatersrand and Ampath National Laboratories, Johannesburg 2193, South Africa.
Papers in Europe PMC - 06Jenkins T3 papers · 1997
Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.
Papers in Europe PMC - 07Karlsen C3 papers · 2015
Section of Microbiology, Immunology and Parasitology, Department of Food Safety and Infection Biology, Faculty of Veterinary Medicine and Biosciences, Norwegian University of Life Sciences, Ullevålsveien 72, Oslo, Norway. christian.karlsen@nmbu.no.
Papers in Europe PMC - 08Postolache TT3 papers · 2022
Mood and Anxiety Program, University of Maryland School of Medicine, Baltimore, MD, USA; Saint Elizabeths Hospital, DC Department of Behavioral Health, Washington, DC, USA; Veterans Health Administration, Rocky Mountain Mental Illness Research Education and Clinical Center (MIRECC), Rocky Mountain Regional Veterans Affairs Medical Center (RMRVAMC), Aurora, CO, USA; Veterans Health Administration, Capitol MIRECC, Baltimore VA Medical Center, Baltimore MD, USA. Electronic address: tpostola@som.umaryland.edu.
Papers in Europe PMC - 09Sørum H3 papers · 2015
Section of Microbiology, Immunology and Parasitology, Department of Food Safety and Infection Biology, Faculty of Veterinary Medicine and Biosciences, Norwegian University of Life Sciences, Ullevålsveien 72, Oslo, Norway. henning.sorum@nmbu.no.
Papers in Europe PMC - 10
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-29
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 Keratolytic winter erythema — 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.
("Keratolytic winter erythema" OR "Erythrokeratolysis hiemalis" OR "Oudtshoorn disease") OR (MESH:"Keratolytic winter erythema") OR ("CTSB" OR "CTSB syndrome" OR "CTSB-related")MeSH descriptor terms unioned into the query: Keratolytic winter erythema
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Keratolytic winter erythema" OR "Erythrokeratolysis hiemalis" OR "Oudtshoorn disease"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
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 (8097) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T00:45:32.036Z