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Chilblain lupus

MedGen UID:
1632142
Concept ID:
C4551515
Disease or Syndrome
Synonym: Chilblain lupus erythematosus
SNOMED CT: Sarcoidosis, lupus pernio type (72470008); Chilblain lupus erythematosus (238928005); Lupus pernio (72470008)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0019557
Orphanet: ORPHA90280

Definition

A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Chilblain lupus

Professional guidelines

PubMed

Walling HW, Sontheimer RD
Am J Clin Dermatol 2009;10(6):365-81. doi: 10.2165/11310780-000000000-00000. PMID: 19824738
Cavazzana I, Sala R, Bazzani C, Ceribelli A, Zane C, Cattaneo R, Tincani A, Calzavara-Pinton PG, Franceschini F
Lupus 2009 Jul;18(8):735-9. doi: 10.1177/0961203308101714. PMID: 19502270
Su WP, Perniciaro C, Rogers RS 3rd, White JW Jr
Cutis 1994 Dec;54(6):395-9. PMID: 7867381

Recent clinical studies

Etiology

Jabalameli N, Rajabi F, Firooz A, Rezaei N
Immunol Invest 2022 May;51(4):1087-1094. Epub 2021 Jan 26 doi: 10.1080/08820139.2021.1876086. PMID: 33494631
Wollina U, Karadağ AS, Rowland-Payne C, Chiriac A, Lotti T
Dermatol Ther 2020 Sep;33(5):e13549. Epub 2020 May 29 doi: 10.1111/dth.13549. PMID: 32390279Free PMC Article
Fragoulis GE, McInnes IB, Siebert S
Rheumatology (Oxford) 2019 Feb 1;58(Suppl 1):i43-i54. doi: 10.1093/rheumatology/key276. PMID: 30806709Free PMC Article
Fiehn C
Curr Rheumatol Rep 2017 Aug 26;19(10):61. doi: 10.1007/s11926-017-0689-x. PMID: 28844088
Aringer M, Günther C, Lee-Kirsch MA
Clin Immunol 2013 Jun;147(3):216-22. Epub 2012 Dec 12 doi: 10.1016/j.clim.2012.11.012. PMID: 23290784

Diagnosis

Wang WY, Lin MC
N Engl J Med 2024 Jul 25;391(4):e6. doi: 10.1056/NEJMicm2400724. PMID: 39047243
Dubey S, Joshi N, Stevenson O, Gordon C, Reynolds JA
Rheumatology (Oxford) 2022 Nov 28;61(12):4631-4642. doi: 10.1093/rheumatology/keac231. PMID: 35412601Free PMC Article
Yin H, Lu L
Eur J Intern Med 2022 Jun;100:119-120. Epub 2022 Mar 22 doi: 10.1016/j.ejim.2022.03.019. PMID: 35331594
Crow YJ
Handb Clin Neurol 2013;113:1629-35. doi: 10.1016/B978-0-444-59565-2.00031-9. PMID: 23622384
Walling HW, Sontheimer RD
Am J Clin Dermatol 2009;10(6):365-81. doi: 10.2165/11310780-000000000-00000. PMID: 19824738

Therapy

Wang WY, Lin MC
N Engl J Med 2024 Jul 25;391(4):e6. doi: 10.1056/NEJMicm2400724. PMID: 39047243
Klein B, Treudler R, Simon JC
J Dtsch Dermatol Ges 2022 Jan;20(1):19-24. Epub 2021 Dec 28 doi: 10.1111/ddg.14668. PMID: 34962052
Horino T, Ichii O, Terada Y
J Clin Rheumatol 2020 Sep;26(6):e192. doi: 10.1097/RHU.0000000000001061. PMID: 31116124
Fragoulis GE, McInnes IB, Siebert S
Rheumatology (Oxford) 2019 Feb 1;58(Suppl 1):i43-i54. doi: 10.1093/rheumatology/key276. PMID: 30806709Free PMC Article
Patel S, Hardo F
BMJ Case Rep 2013 Nov 27;2013 doi: 10.1136/bcr-2013-201165. PMID: 24285807Free PMC Article

Prognosis

Weidler S, Koss S, Wolf C, Lucas N, Brunner J, Lee-Kirsch MA
Pediatr Rheumatol Online J 2024 Jan 4;22(1):9. doi: 10.1186/s12969-023-00934-4. PMID: 38178067Free PMC Article
Wollina U, Karadağ AS, Rowland-Payne C, Chiriac A, Lotti T
Dermatol Ther 2020 Sep;33(5):e13549. Epub 2020 May 29 doi: 10.1111/dth.13549. PMID: 32390279Free PMC Article
Zimmermann N, Wolf C, Schwenke R, Lüth A, Schmidt F, Engel K, Lee-Kirsch MA, Günther C
JAMA Dermatol 2019 Mar 1;155(3):342-346. doi: 10.1001/jamadermatol.2018.5077. PMID: 30673078Free PMC Article
Wang ML, Chan MP
Am J Dermatopathol 2018 Apr;40(4):265-271. doi: 10.1097/DAD.0000000000000945. PMID: 28719438
Chasset F, Bouaziz JD, Costedoat-Chalumeau N, Francès C, Arnaud L
Br J Dermatol 2017 Jul;177(1):188-196. Epub 2017 May 5 doi: 10.1111/bjd.15312. PMID: 28112801

Clinical prediction guides

David C, Arango-Franco CA, Badonyi M, Fouchet J, Rice GI, Didry-Barca B, Maisonneuve L, Seabra L, Kechiche R, Masson C, Cobat A, Abel L, Talouarn E, Béziat V, Deswarte C, Livingstone K, Paul C, Malik G, Ross A, Adam J, Walsh J, Kumar S, Bonnet D, Bodemer C, Bader-Meunier B, Marsh JA, Casanova JL, Crow YJ, Manoury B, Frémond ML, Bohlen J, Lepelley A
J Exp Med 2024 Aug 5;221(8) Epub 2024 Jun 13 doi: 10.1084/jem.20232066. PMID: 38869500Free PMC Article
Carter LM, Wigston Z, Laws P, Vital EM
Br J Dermatol 2023 Jul 17;189(2):210-218. doi: 10.1093/bjd/ljad089. PMID: 36944572
Jabalameli N, Rajabi F, Firooz A, Rezaei N
Immunol Invest 2022 May;51(4):1087-1094. Epub 2021 Jan 26 doi: 10.1080/08820139.2021.1876086. PMID: 33494631
Klein B, Günther C
Front Immunol 2021;12:715723. Epub 2021 Jul 23 doi: 10.3389/fimmu.2021.715723. PMID: 34381458Free PMC Article
Chasset F, Bouaziz JD, Costedoat-Chalumeau N, Francès C, Arnaud L
Br J Dermatol 2017 Jul;177(1):188-196. Epub 2017 May 5 doi: 10.1111/bjd.15312. PMID: 28112801

Recent systematic reviews

Chasset F, Bouaziz JD, Costedoat-Chalumeau N, Francès C, Arnaud L
Br J Dermatol 2017 Jul;177(1):188-196. Epub 2017 May 5 doi: 10.1111/bjd.15312. PMID: 28112801

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