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Chilblain lupus 2(CHBL2)

MedGen UID:
482351
Concept ID:
C3280721
Disease or Syndrome
Synonym: CHBL2
 
Gene (location): SAMHD1 (20q11.23)
 
Monarch Initiative: MONDO:0013739
OMIM®: 614415

Definition

Chilblain lupus is a rare cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by tender, bluish-red swellings and nodules on the hands, feet, ears, and nose, with histologic changes of lupus. The phenotype is induced by cold, such that patients frequently report a worsening of lesions in the winter months (summary by Ravenscroft et al., 2011). For a general description and a discussion of genetic heterogeneity of chilblain lupus, see CHBL1 (610448). [from OMIM]

Clinical features

From HPO
Chilblains
MedGen UID:
886
Concept ID:
C0008058
Injury or Poisoning
Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.
Cutaneous photosensitivity
MedGen UID:
87601
Concept ID:
C0349506
Pathologic Function
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
Papillary dermal edema
MedGen UID:
482355
Concept ID:
C3280725
Finding
Swelling due to fluid acculuation of the papillary dermis.

Professional guidelines

PubMed

Pisoni CN, Obermoser G, Cuadrado MJ, Sanchez FJ, Karim Y, Sepp NT, Khamashta MA, Hughes GR
Clin Exp Rheumatol 2005 May-Jun;23(3):393-6. PMID: 15971430
Su WP, Perniciaro C, Rogers RS 3rd, White JW Jr
Cutis 1994 Dec;54(6):395-9. PMID: 7867381

Recent clinical studies

Etiology

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
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
Nezos A, Makri P, Gandolfo S, De Vita S, Voulgarelis M, Crow MK, Mavragani CP
Cytokine 2020 Aug;132:154781. Epub 2019 Jul 18 doi: 10.1016/j.cyto.2019.154781. PMID: 31326279
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

Diagnosis

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
Nezos A, Makri P, Gandolfo S, De Vita S, Voulgarelis M, Crow MK, Mavragani CP
Cytokine 2020 Aug;132:154781. Epub 2019 Jul 18 doi: 10.1016/j.cyto.2019.154781. PMID: 31326279
Paradis C, Cadieux-Dion M, Meloche C, Gravel M, Paradis J, Des Roches A, Leclerc G, Cossette P, Begin P
J Clin Immunol 2019 Jan;39(1):118-125. Epub 2019 Jan 26 doi: 10.1007/s10875-018-0584-x. PMID: 30685859
Fiehn C
Curr Rheumatol Rep 2017 Aug 26;19(10):61. doi: 10.1007/s11926-017-0689-x. PMID: 28844088
Wollina U, Barta U, Uhlemann C, Oelzner P
J Am Acad Dermatol 1999 Sep;41(3 Pt 1):419-21. doi: 10.1016/s0190-9622(99)70115-5. PMID: 10459116

Therapy

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
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
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
König N, Fiehn C, Wolf C, Schuster M, Cura Costa E, Tüngler V, Alvarez HA, Chara O, Engel K, Goldbach-Mansky R, Günther C, Lee-Kirsch MA
Ann Rheum Dis 2017 Feb;76(2):468-472. Epub 2016 Aug 26 doi: 10.1136/annrheumdis-2016-209841. PMID: 27566796
Su WP, Perniciaro C, Rogers RS 3rd, White JW Jr
Cutis 1994 Dec;54(6):395-9. PMID: 7867381

Prognosis

Zhang S, Song J, Yang Y, Miao H, Yang L, Liu Y, Zhang X, Liu Y, Wang T
Pediatr Rheumatol Online J 2021 Jan 6;19(1):1. doi: 10.1186/s12969-020-00490-1. PMID: 33407657Free 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
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
Günther C, Meurer M, Stein A, Viehweg A, Lee-Kirsch MA
Dermatology 2009;219(2):162-6. Epub 2009 May 28 doi: 10.1159/000222430. PMID: 19478477

Clinical prediction guides

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
Frumholtz L, Bouaziz JD, Battistella M, Hadjadj J, Chocron R, Bengoufa D, Le Buanec H, Barnabei L, Meynier S, Schwartz O, Grzelak L, Smith N, Charbit B, Duffy D, Yatim N, Calugareanu A, Philippe A, Guerin CL, Joly B, Siguret V, Jaume L, Bachelez H, Bagot M, Rieux-Laucat F, Maylin S, Legoff J, Delaugerre C, Gendron N, Smadja DM, Cassius C; Saint-Louis CORE (COvid REsearch)
Br J Dermatol 2021 Dec;185(6):1176-1185. Epub 2021 Oct 5 doi: 10.1111/bjd.20707. PMID: 34611893Free 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
Franceschini F, Calzavara-Pinton P, Valsecchi L, Quinzanini M, Zane C, Facchetti F, Airò P, Cattaneo R
Adv Exp Med Biol 1999;455:167-71. doi: 10.1007/978-1-4615-4857-7_24. PMID: 10599339
Wollina U, Barta U, Uhlemann C, Oelzner P
J Am Acad Dermatol 1999 Sep;41(3 Pt 1):419-21. doi: 10.1016/s0190-9622(99)70115-5. PMID: 10459116

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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