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Chilblain lupus 1(CHBL1)

MedGen UID:
9822
Concept ID:
C0024145
Disease or Syndrome
Synonym: CHBL1
 
Gene (location): TREX1 (3p21.31)
 
Monarch Initiative: MONDO:0012500
OMIM®: 610448

Definition

Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006). Genetic Heterogeneity of Chilblain Lupus See also CHBL2 (614415), caused by mutation in the SAMHD1 gene (606754) on chromosome 20q11. Mutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, 225750 and AGS5, 612952, respectively). [from OMIM]

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Autoamputation of digits
MedGen UID:
343770
Concept ID:
C1852289
Finding
The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.
Raynaud phenomenon
MedGen UID:
20474
Concept ID:
C0034735
Disease or Syndrome
An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.
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.
Antinuclear antibody positivity
MedGen UID:
101792
Concept ID:
C0151480
Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
Elevated erythrocyte sedimentation rate
MedGen UID:
57727
Concept ID:
C0151632
Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Skin ulcer
MedGen UID:
52369
Concept ID:
C0037299
Disease or Syndrome
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
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.
Abnormality of the nail
MedGen UID:
163115
Concept ID:
C0853087
Anatomical Abnormality
Abnormality of the nail.

Recent clinical studies

Etiology

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
Wang ML, Chan MP
Am J Dermatopathol 2018 Apr;40(4):265-271. doi: 10.1097/DAD.0000000000000945. PMID: 28719438
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

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
Arora S, Mathuram AJ
Indian J Med Res 2017 Oct;146(4):548-549. doi: 10.4103/ijmr.IJMR_1123_16. PMID: 29434072Free PMC Article
Patel S, Hardo F
BMJ Case Rep 2013 Nov 27;2013 doi: 10.1136/bcr-2013-201165. PMID: 24285807Free PMC Article
Sifuentes Giraldo WA, Ahijón Lana M, García Villanueva MJ, González García C, Vázquez Diaz M
Clin Rheumatol 2012 Mar;31(3):563-8. Epub 2011 Dec 30 doi: 10.1007/s10067-011-1924-x. PMID: 22207249
ANDREWS GC
Arch Derm Syphilol 1948 Mar;57(3 Pt. 2):558. PMID: 18101528

Therapy

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
Ferrara G, Cerroni L
Am J Dermatopathol 2016 Oct;38(10):726-31. doi: 10.1097/DAD.0000000000000477. PMID: 26885604
Patel S, Hardo F
BMJ Case Rep 2013 Nov 27;2013 doi: 10.1136/bcr-2013-201165. PMID: 24285807Free PMC Article
Sifuentes Giraldo WA, Ahijón Lana M, García Villanueva MJ, González García C, Vázquez Diaz M
Clin Rheumatol 2012 Mar;31(3):563-8. Epub 2011 Dec 30 doi: 10.1007/s10067-011-1924-x. PMID: 22207249

Prognosis

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
Ferrara G, Cerroni L
Am J Dermatopathol 2016 Oct;38(10):726-31. doi: 10.1097/DAD.0000000000000477. PMID: 26885604
Günther C, Hillebrand M, Brunk J, Lee-Kirsch MA
J Am Acad Dermatol 2013 Oct;69(4):e179-81. doi: 10.1016/j.jaad.2013.04.020. PMID: 24034389

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
Wang ML, Chan MP
Am J Dermatopathol 2018 Apr;40(4):265-271. doi: 10.1097/DAD.0000000000000945. PMID: 28719438
Ferrara G, Cerroni L
Am J Dermatopathol 2016 Oct;38(10):726-31. doi: 10.1097/DAD.0000000000000477. PMID: 26885604
Grieves JL, Fye JM, Harvey S, Grayson JM, Hollis T, Perrino FW
Proc Natl Acad Sci U S A 2015 Apr 21;112(16):5117-22. Epub 2015 Apr 6 doi: 10.1073/pnas.1423804112. PMID: 25848017Free PMC Article
Günther C, Berndt N, Wolf C, Lee-Kirsch MA
JAMA Dermatol 2015 Apr;151(4):426-31. doi: 10.1001/jamadermatol.2014.3438. PMID: 25517357

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