title: Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.
abstract: Chilblain lupus erythematosus is a rare form of cutaneous lupus erythematosus characterized by bluish red infiltrates in acral locations of the body mostly affecting middle-aged women. We recently described a familial form of chilblain lupus manifesting in early childhood caused by a heterozygous mutation in the TREX1 gene, which encodes a 3'-5' DNA exonuclease. Thus, familial chilblain lupus represents the first monogenic form of cutaneous lupus erythematosus. Here we describe the unusual clinical course of this newly defined genodermatosis in an 18-year-old female member of the family in which familial chilblain lupus was originally described.
authors.affiliation: University Hospital for Dermatology, Technical University Dresden, Dresden, Germany. claudia.guenther@uniklinikum-dresden.de
authors.forename: C
authors.initials: C
authors.lastname: Günther
authors.forename: M
authors.initials: M
authors.lastname: Meurer
authors.forename: A
authors.initials: A
authors.lastname: Stein
authors.forename: A
authors.initials: A
authors.lastname: Viehweg
authors.forename: M A
authors.initials: MA
authors.lastname: Lee-Kirsch
mesh_terms: D000293:Adolescent; D001241:Aspirin / Q000627:therapeutic use; D001707:Biopsy, Needle; D002908:Chronic Disease; D018450:Disease Progression; D004359:Drug Therapy, Combination; D005090:Exodeoxyribonucleases / Q000235:genetics*; D005260:Female; D019085:Fluorescent Antibody Technique, Direct; D005500:Follow-Up Studies; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006801:Humans; D006886:Hydroxychloroquine / Q000627:therapeutic use; D007150:Immunohistochemistry; D008178:Lupus Erythematosus, Cutaneous / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*; D009154:Mutation; D010750:Phosphoproteins / Q000235:genetics*; D035583:Rare Diseases; D018570:Risk Assessment; D012720:Severity of Illness Index; D016896:Treatment Outcome
chemical_list: D010750:Phosphoproteins; D006886:Hydroxychloroquine; D005090:Exodeoxyribonucleases; C429526:three prime repair exonuclease 1; D001241:Aspirin