title: [Pyroderma fistulans sinifica associated with congenital alpha-1-antitrypsin deficiency].
abstract: A patient is reported who suffered from pyodermia fistulans sinifica (acne conglobata sinifica, acne tetrade) and who presented a severe congenital alpha-1-antitrypsin deficiency (phenotype ZZ). The possible significance of the protease inhibitor deficiency for the development of this disease is discussed. Alpha-1-antitrypsin deficiency has been observed in several dermatoses (panniculitis, cutaneous vasculitis, Ehlers-Danlos syndrome, acquired angioneurotic edema and cold urticaria). The insufficient neutralization of liberated leukocyte proteases has been considered to play an important role in these disorders. Besides the ultrastructural finding in the liver cell which is typical for alpha-1-antitrypsin deficiency crystals were found as are seen in the cholesterol ester storage disease. This was probably caused by an increased influx of fatty acids.
mesh_terms: D005260:Female; D006801:Humans; D008099:Liver / Q000648:ultrastructure; D008854:Microscopy, Electron; D008875:Middle Aged; D011711:Pyoderma / Q000150:complications* / Q000473:pathology; D019896:alpha 1-Antitrypsin Deficiency
vernacular_title: Pyodermia fistulans sinifica und kongenitaler Alpha-1-Antitrypsinmangel. Proteaseninhibitormangel bei Dermatosen.