Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042109 (urticaria)
 6,569 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
 ...
PMID:[Pyroderma fistulans sinifica associated with congenital alpha-1-antitrypsin deficiency]. 696 74

Alpha1 antitrypsin (AAT) deficiency is an autosomic codominant inherited disorder characterized by inefficient or non-functional serum AAT. The principal clinical manifestations are panlobular emphysema and cirrhoses. Among cutaneous aspects, about 30 cases of panniculitis have been reported in the literature, likewise rare clinical cases: pemphigus herpetiformis, Muir Torre syndrome, urticaria and angioedema, cutis laxa and Marshall syndrome, lupus erythematosus, psoriasis, vasculitis. Probably because of it's high frequency, numerous others diseases have been reported described in association. Acting on several factors of inflammation, AAT deficiency seems product or modify the expression of some, notably cutaneous diseases.
 ...
PMID:[Alpha-1-antitrypsin deficiency. Role in skin disorders]. 1266 63