title: Familial chilblain and late contractural arachnodactyly: a novel association?
abstract: We report an Italian family suffering from chilblain. Seven members over three generations affected, two of them presenting association with late contractural arachnodactyly. Inflammatory cutaneous lesions following exposure to cold or drop in temperature are called chilblain. Arachnodactyly is an hallmark of hereditary connective tissue disorders such as Marfan's syndrome and Beals' syndrome. The latter, showing joint congenital contractures, is called indeed congenital contractural arachnodactyly. We speculate that an underlying alteration in connective tissue could lead to the association between chilblain lesions and contractural arachnodactyly.
authors.affiliation: Department of Medical Sciences, University of Cagliari and AOU of Cagliari, Italy.
authors.forename: Matteo
authors.initials: M
authors.lastname: Piga
authors.forename: Alessandra
authors.initials: A
authors.lastname: Vacca
authors.forename: Alberto
authors.initials: A
authors.lastname: Cauli
authors.forename: Giovanni
authors.initials: G
authors.lastname: Porru
authors.forename: Alessandro
authors.initials: A
authors.lastname: Mathieu
mesh_terms: D000293:Adolescent; D054119:Arachnodactyly / Q000235:genetics / Q000473:pathology*; D002647:Chilblains / Q000151:congenital / Q000235:genetics / Q000473:pathology*; D003286:Contracture / Q000151:congenital / Q000235:genetics / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics / Q000473:pathology*; D008875:Middle Aged; D009035:Mothers; D010375:Pedigree