An unusual reaction to cold: a sporadic case of familial polymorphous cold eruption?

Abstract

A 14-year-old Japanese girl had a lifelong history of skin lesions developing after generalized exposure to cold air; the lesions were often accompanied by systemic symptoms such as fever and chills. The skin lesions were non-pruritic, maculopapular, erythematous eruptions and were neither urticarial nor angioedematous. An ice-cube test was negative. Laboratory examinations showed marked leucocytosis during an acute attack. On the basis of clinical features, histological findings and laboratory data, although these symptoms were sporadic, the most likely diagnosis was familial polymorphous cold eruption, which has also been referred to as familial cold urticaria. Serum levels of granulocyte colony-stimulating factor and interleukin 6 were significantly elevated during an acute attack after cold exposure, suggesting that both cytokines played important parts in the development of her condition.

Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P

“…Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P description in 1940 (Castelain 1971;Commerford and Meyers 1977;Derbes and Coleman 1972;Doeglas 1973;Fordyce and Coulson 1993;Kalogeromitros et al 1995;Kile and Rusk 1940;Martin et al 1981;Ormerod et al 1993;Rodin 1951;Roux et al 1982;Shepard 1971;Tindall et al 1969;Urano et al 1998;Urbach et al 1941;Vlagopoulos et al 1975;Wanderer 1979;Witherspoon et al 1948;Zip et al 1993). Most of the reports describe large families with extensive pedigrees, but apparent de novo mutations and sporadic cases have also been described.…”

The discovery of NLRP3 and its function in cryopyrin‐associated periodic syndromes and innate immunity

“…Symptoms could be induced by immersion of her arm in cold water and were resistant to therapies for allergic urticaria commonly used at the time. Additional families with similar phenotypes and elevations in acute phase reactants were reported over the next 6 decades, variably described as cold hypersensitivity, familial cold urticaria (FCU), and finally FCAS 13,14 in an attempt to differentiate this chronic, inherited, systemic inflammatory disorder from the more common acquired cold urticaria 15 …”

Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria

“…The linkage of both FCU and MWS to 1q44 and the presence of patients with both distinct phenotypes provides additional information regarding the genetic linkage of the FCU phenotype. Both conditions are characterized by recurrent episodes of rash, arthralgia, myalgia, fever, conjunctivitis, and leukocytosis and by elevated serum interleukin-6 levels (Gerbig et al 1998;Urano et al 1998). However, patients with FCU develop these symptoms only after exposure to cold, and patients with MWS develop symptoms without such exposure.…”

“…The only significant abnormalities of inflammatory mediators in FCU are elevations of granulocyte colonystimulating factor, interleukin-6 (Urano et al 1998), and acute-phase reactants such as C-reactive protein (Tonnesen et al 1985b). Kinins, histamine, and other mastcell mediator levels are normal (Tindall et al 1969;Doeglas and Bleumink 1974).…”