Familial chilblain lupus (FCL)

Definition:

Familial chilblain lupus (FCL) is a rare, inherited form of cutaneous lupus with prominent skin manifestations in acral parts of the body. Two families with autosomal dominant-inherited chilblain lupus have been reported. First symptoms manifest in early childhood, developing hypergammaglobulinemia and rheumatoid factor antibody production. In FCL, missense mutations in TREX1 that decrease its exonuclease activity were described. The failure of DNA degradation can result in aberrant immune response.

References:

[1]. C Günther, et al. Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1. Dermatology. 2009;219(2):162-6. [Content Brief]

[2]. C M Hedrich, et al. Chilblain lupus erythematosus--a review of literature. Clin Rheumatol. 2008 Aug;27(8):949-54. [Content Brief]

[3]. Jane C Ravenscroft, et al. Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. Am J Med Genet A. 2011 Jan;155A(1):235-7. [Content Brief]

[4]. Min Ae Lee-Kirsch, et al. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J Mol Med (Berl). 2007 May;85(5):531-7. [Content Brief]

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