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Familial chilblain lupus 1

Familial Chilblain lupus type 1 is an autosomal dominant disorder which is due to mutations of the TREX1 gene. Onset is in early childhood with symptoms redness, itching, inflammation, and sometimes blisters of toes and fingers. The symptoms use to exacerbate in cold and humid climate and show a remission in the sommer.

Epidemiology

The prevalence of all types of familial chilblain lupus is less than 1:1,000,000.

Laboratory tests

Laboratory findings include signs of inflammation and antinuclear autoantibodies.

Systematic

Familial Chilblain lupus
Familial Chilblain lupus 2
Familial chilblain lupus 1
TREX1

References:

1.

Rice G et al. (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

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2.

Lee-Kirsch MA et al. (2006) Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

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3.

Rice G et al. (2007) Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

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4.

Lee-Kirsch MA et al. (2007) A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.

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5.

Lee-Kirsch MA et al. (2007) Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

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6.

Haaxma CA et al. (2010) A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

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7.

Weston WL et al. () Childhood pernio and cryoproteins.

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8.

None (1952) The clinical observations of Jonathan Hutchinson.

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9.

None (2005) The Gordon Wilson Lecture: The clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics.

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10.

None (1888) Harveian Lectures on Lupus.

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11.

Wikipedia article

Wikipedia EN (Chilblains) external link
Update: Aug. 14, 2020
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