Weber-Christian disease associated with familial alpha-1-antitrypsin deficiency. Apropos of a case

• Published in: Annales de dermatologie et de vénéréologie Vol. 112; no. 1; p. 35
• Main Authors: Lonchampt, F, Blanc, D, Terrasse, F, Humbert, P, Kienzler, J L, Agache, P
• Format: Journal Article
• Language: French
• Published: France 1985
• Subjects: alpha 1-Antitrypsin Deficiency; Female; Humans; Metabolism, Inborn Errors - complications; Metabolism, Inborn Errors - genetics; Middle Aged; Panniculitis, Nodular Nonsuppurative - complications; Panniculitis, Nodular Nonsuppurative - drug therapy; Panniculitis, Nodular Nonsuppurative - pathology; Phenotype; Prednisone - therapeutic use; Skin - pathology
• ISSN: 0151-9638

The authors report a case of Weber-Christian disease associated with familial alpha-1-antitrypsin deficiency in a 47-year-old woman. The serum alpha-1-antitrypsin level is low and the phenotype is Pi ZZ. The histological picture was consistent with Weber-Christian panniculitis, showing foci of fat cell necrosis with lipophagic granuloma and fibrosis. The same biological trait also exists in the propositus' sister who developed emphysema without cutaneous involvement. The pathogenesis probably rests on a particular reactivity to microtraumata with exacerbation of local inflammatory events due to a partial deficient control of proteolytic activity. The prognosis of the disease varies from a chronic recurrent process to a short fulminant course with possible fatal outcome. The treatment is at the present time ill-codified and any how only symptomatic. In this case, the propositus responded well to a high dose regimen of corticosteroids, 100 mg daily, but relapsed as the treatment was reduced to 50 mg daily.