title: Familial systemic sclerosis following exposure to organic solvents and the possible implication of genetic factors.
abstract: Both genetic and environmental factors are suspected to play a role in the pathogenesis of systemic sclerosis. We compare its occurrence in 3 sisters working in a dry cleaner's shop and exposed to occupational inhalation of organic solvents. Two sisters showing the human leukocyte antigens (HLA)-DR11/DQ7 haplotype were affected. The third has maintained the same job as the others for over 10 years and has no signs of the disease. The fact that she has a different HLA haplotype points to the significance of genetic factors in increasing the risk of systemic sclerosis. It is suggested that the DR11/DQ7 haplotype enhances the development of a clinical subset of systemic sclerosis associated with production of anti-topoisomerase-I antibodies, and that environmental triggers prime the disease in subjects with this genetic background.
authors.affiliation: Sezione di Medicina Interna e Oncologia Clinica, Dipartimento di Scienze Biomediche e Oncologia Umana, Università degli Studi di Bari.
authors.forename: N
authors.initials: N
authors.lastname: Calvani
authors.forename: F
authors.initials: F
authors.lastname: Silvestris
authors.forename: F
authors.initials: F
authors.lastname: Dammacco
mesh_terms: D005260:Female; D006801:Humans; D008875:Middle Aged; D009784:Occupational Diseases / Q000139:chemically induced* / Q000235:genetics; D016273:Occupational Exposure / Q000009:adverse effects*; D009930:Organic Chemicals / Q000009:adverse effects*; D012595:Scleroderma, Systemic / Q000139:chemically induced* / Q000235:genetics; D012997:Solvents / Q000009:adverse effects*
chemical_list: D009930:Organic Chemicals; D012997:Solvents