Chilblain lupus erythematosus

Common Name(s)

Chilblain lupus erythematosus

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 {5: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).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chilblain lupus erythematosus" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Chilblain lupus erythematosus" returned 6 free, full-text research articles on human participants. First 3 results:

JAK1/2 Inhibitor Ruxolitinib Controls a Case of Chilblain Lupus Erythematosus.
 

Author(s): Joerg Wenzel, Nadine van Holt, Judith Maier, Maria Vonnahme, Thomas Bieber, Dominik Wolf

Journal: J. Invest. Dermatol.. 2016 06;136(6):1281-3.

 

Last Updated: 31 Dec 1969

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Chilblain lupus erythematosus.
 

Author(s): Sapna Patel, Faddy Hardo

Journal:

 

Chilblain lupus erythematosus is a rare form of chronic cutaneous lupus erythematosus. It is characterised by purple plaques/nodules and oedematous skin mainly around the acral regions of the body, which are most exposed to the cold. In this paper we report a case of chilblain lupus ...

Last Updated: 31 Dec 1969

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Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.
 

Author(s): Min Ae Lee-Kirsch, Maolian Gong, Herbert Schulz, Franz RĂ¼schendorf, Annette Stein, Christiane Pfeiffer, Annalisa Ballarini, Manfred Gahr, Norbert Hubner, Maja LinnĂ©

Journal: Am. J. Hum. Genet.. 2006 Oct;79(4):731-7.

 

Systemic lupus erythematosus is a prototypic autoimmune disease. Apart from rare monogenic deficiencies of complement factors, where lupuslike disease may occur in association with other autoimmune diseases or high susceptibility to bacterial infections, its etiology is multifactorial ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Chilblain lupus erythematosus" returned 0 free, full-text review articles on human participants.

 
 
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