ORPHA:481662
Familial Chilblain lupus
Clinical definition (Orphanet)
A rare monogenic form of cutaneous lupus erythematosus characterized by or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement.
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.
Is anyone studying this?
396
396 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=183) is 38.
396 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
298 in the last 10 years · medium confidence · 84.4th percentile (publications denominator)
Is a treatment being tested?
3
trials for this specific condition
3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 26 July 2026
0
no matched trials for chilblain lupus, the broader category this belongs to either
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
3 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 79.4th percentile).
medium confidence · 79.4th percentile (trials denominator)
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.
Who's working on it?
1,015
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Günther C15 papers · 2022
University Hospital for Dermatology, Technical University Dresden, Dresden, Germany. claudia.guenther@uniklinikum-dresden.de
Papers in Europe PMC - 02Lee-Kirsch MA12 papers · 2025
Klinik für Kinder-und Jugendmedizin, Technische Universität Dresden, Fetscherstr. 74, 01307, Dresden, Germany. minae.lee-kirsch@uniklinikum-dresden.de
Papers in Europe PMC - 03Crow YJ11 papers · 2024
Genetic Medicine, University of Manchester, St Mary's Hospital, Manchester, UK. Electronic address: yanickcrow@mac.com.
Papers in Europe PMC - 04Liu Y6 papers · 2025
Department of Critical Care Medicine, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China.
Papers in Europe PMC - 05Perrino FW6 papers · 2022
Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, North Carolina 27157. Electronic address: fperrino@wakehealth.edu.
Papers in Europe PMC - 06Wolf C6 papers · 2025
Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Papers in Europe PMC - 07Rice GI5 papers · 2018
Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, United Kingdom.
Papers in Europe PMC - 08Sullivan KE5 papers · 2025
Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Papers in Europe PMC - 09Zimmermann N5 papers · 2022
Department of Dermatology, University Hospital, Technical University Dresden, Dresden, Germany.
Papers in Europe PMC - 10Casanova JL4 papers · 2022
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
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 below but are not added to the query string.
"Familial Chilblain lupus" OR "hereditary Chilblain lupus"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial Chilblain lupus" OR "hereditary Chilblain lupus" OR "chronic cutaneous lupus erythematosus"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 3 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C5688224
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 (396) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium