Chilblain lupus erythematosus was initially described by Hutchinson in 1888 as an uncommon manifestation of chronic cutaneous lupus erythematosus.[2] Chilblain lupus erythematosus is characterized by a rash that primarily affects acral surfaces that are frequently exposed to cold temperatures, such as the toes, fingers, ears, and nose. The rash is defined by oedematous skin, nodules, and tender plaques with a purple discoloration.[3]
Lesions typically start during cold or wet weather and don't go away entirely.[4] Generally, they are found on the backs of the hands and fingers, with some patients having more of them on the auricular finger.[6] The feet can be affected as well. Foot lesions often result in necrosis developing more quickly if they are on the soles.[4] Lesions on the trunk are rare, as are involvement of the ears and nose.[7]
Lesions typically begin as pruritic and papuloerythematous, then become painful.[4] There may occasionally be tiny ulcerations, fissural hyperkeratosis, and purplish infiltrates that resemble plaque.[8]
In certain instances, CHLE lesions coincide with Raynaud's syndrome.[9] It's not always necessary to have typical chilblains, especially in warm climates.[7]
Causes
The majority of chilblain lupus erythematosus cases are sporadic, with an autoimmune underlying pathophysiology; however, rare familial cases that are inherited autosomally dominantly have also been reported. The etiology of sporadic chilblain lupus erythematosus is believed to be vasoconstriction or microvascular injury brought on by cold.[10]
Mechanism
A missense mutation in TREX1, encoding the 3′–5′ repair exonuclease 1, was found in affected individuals of one kindred in familial CHLE with autosomal dominant inheritance.[11] The killer lymphocytic protease granzyme A causes apoptotic ss-DNA damage, which is mediated in part by the TREX1 gene product. Granzyme A-mediated cell death was substantially less effective in heterozygous lymphoblast cells with the p.D18N mutation in TREX1, indicating a potential new function for this caspase-independent type of apoptosis in the pathophysiology of familial CHLE. It has been discovered that TREX1 mutations are linked to Sjögren's syndrome and SLE.[12]
In order to stop recurrences, the first line of defense is to shield acral sites from cold and low temperatures. To avoid secondary infections, necrotic lesions must be treated as soon as possible with topical or systemic antibiotics. Up to half of patients have been demonstrated to benefit from topical steroids, especially when used in conjunction with a brief course of systemic steroids. Tacrolimus ointment and pimecrolimus cream, two topical calcineurin inhibitors, may also be useful in avoiding skin atrophy, one of the local side effects of long-term topical steroids.[14] Because calcium channel blockers like nifedipine work against vasoconstriction, they lessen erythema and pain. Giving up smoking might be taken into consideration as a way to maximize the therapeutic benefits.[15]
Epidemiology
Only about 70 CHLE patients have been documented to as of 2008,[15] including two families with an autosomal dominant-inherited form known as familial CHLE.[11][16] While familial CHLE typically first appears in early childhood,[11] sporadic CHLE typically affects middle-aged females.[4]
^ abcdeDoutre, M.S.; Beylot, C.; Beylot, J.; Pompougnac, E.; Royer, P. (1992). "Chilblain Lupus erythematosus: Report of 15 Cases". Dermatology. 184 (1). S. Karger AG: 26–28. doi:10.1159/000247494. ISSN1018-8665. PMID1558991.
^Franceschini, F; Calzavara-Pinton, P; Quinzanini, M; Cavazzana, I; Bettoni, L; Zane, C; Facchetti, F; Airò, P; McCauliffe, D P; Cattaneo, R (1999). "Chilblain lupus erythematosus is associated with antibodies to SSA/Ro". Lupus. 8 (3). SAGE Publications: 215–219. doi:10.1191/096120399678847632. ISSN0961-2033. PMID10342714. S2CID40390076.
^ abFisher, D. A. (April 1, 1996). "Violaceous rash of dorsal fingers in a woman. Diagnosis: chilblain lupus erythematosus (perniosis)". Archives of Dermatology. 132 (4). American Medical Association (AMA): 459. doi:10.1001/archderm.132.4.459. ISSN0003-987X. PMID8629851.
^ abcLee-Kirsch, Min Ae; Chowdhury, Dipanjan; Harvey, Scott; Gong, Maoliang; Senenko, Lydia; Engel, Kerstin; Pfeiffer, Christiane; Hollis, Thomas; Gahr, Manfred; Perrino, Fred W.; Lieberman, Judy; Hubner, Norbert (April 18, 2007). "A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus". Journal of Molecular Medicine. 85 (5). Springer Science and Business Media LLC: 531–537. doi:10.1007/s00109-007-0199-9. ISSN0946-2716. PMID17440703. S2CID610734.
^Lee-Kirsch, Min Ae; Gong, Maolian; Chowdhury, Dipanjan; Senenko, Lydia; Engel, Kerstin; Lee, Young-Ae; de Silva, Udesh; Bailey, Suzanna L; Witte, Torsten; Vyse, Timothy J; Kere, Juha; Pfeiffer, Christiane; Harvey, Scott; Wong, Andrew; Koskenmies, Sari; Hummel, Oliver; Rohde, Klaus; Schmidt, Reinhold E; Dominiczak, Anna F; Gahr, Manfred; Hollis, Thomas; Perrino, Fred W; Lieberman, Judy; Hübner, Norbert (July 29, 2007). "Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus". Nature Genetics. 39 (9). Springer Science and Business Media LLC: 1065–1067. doi:10.1038/ng2091. ISSN1061-4036. PMID17660818. S2CID37853133.
^ abSu, W P; Perniciaro, C; Rogers 3rd, R S; White Jr, J W (December 1994). "Chilblain lupus erythematosus (lupus pernio): clinical review of the Mayo Clinic experience and proposal of diagnostic criteria". Cutis. 54 (6): 395–399. PMID7867381.{{cite journal}}: CS1 maint: numeric names: authors list (link)
