Alpha1-antitrypsin deficiency with severe panniculitis. Report of two cases.
Two patients with profound decrease of alpha1-antitrypsin (PiZZ) presented with severe pannicultis (Weber-Christian disease); one had systemic panniculitis including pancreatitis. Another possible case is quoted from the literature. Although milder forms of panniculitis can have normal Pi phenotypes and alpha1-antitrypsin levels, the marked reduction of antiproteolytic activity found in PiZZ homozygotes may predispose to or aggravate the lesions of Weber-Christian disease.
D000328:Adult; D001796:Blood Protein Disorders / Q000150:complications; D006801:Humans; D008297:Male; D010195:Pancreatitis / Q000150:complications; D010201:Panniculitis, Nodular Nonsuppurative / Q000150:complications*; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency