UNASSIGNED: @entity3139 associated with @entity8693 ( @entity8693 ) is a very rare disease with an estimated prevalence of 1 in 1,000 subjects with severe @entity8693 (usually Caucasians with a Pi*ZZ genotype). It is manifested clinically by painful recurrent ulcerating subcutaneous nodules, histologically characterized by dense infiltrates of neutrophils in the deep dermis and connective tissue septae, with @entity1137 . It may be the only clinical manifestation of @entity8693 , although it can also occur together with the classical pulmonary or hepatic manifestations of the disease. @entity8693 -associated pannicultis is not only very rare but may also be significantly undiagnosed. The physician managing a case of @entity3139 with a clinical presentation suggestive of @entity8693 and a compatible skin biopsy, should measure serum AAT concentration and, if low, determine the AAT phenotype by isoelectric-focusing. If uncertainty remains, the @entity6417 gene should be sequenced to identify the genotype. If @entity8693 is diagnosed, @entity8693 testing of first-degree family members should be performed in order to take appropriate preventive and therapeutic measures, including: genetic counseling, education on inheritance, risk arising from @entity286 smoke, occupation exposure to pollutants and hepatotoxic substances and the provision of information on clinical management. Cases of @entity3139 , in whom conventional therapy with @entity3761 has failed, may be managed with intravenous augmentative therapy using @entity1 AAT. The current manuscript addresses the fundamental concepts of the pathogenesis of @entity8693 -associated @entity3139 and describes the clinical presentation and management of cases in order to reduce underdiagnosis and improve outcomes. This article is protected by copyright. All rights reserved.

XXXX Associated with Alpha-1 Antitrypsin Deficiency: an Update.

@entity1 :: ('9606', 'Species') :: ['human'] @entity286 :: ('4097', 'Species') :: ['tobacco'] @entity6417 :: ('5265', 'Gene') :: ['SERPINA1'] @entity1137 :: ('MESH:D018275', 'Disease') :: ['secondary lobular panniculitis'] @entity3761 :: ('MESH:D003622', 'Chemical') :: ['Dapsone'] @entity8693 :: ('MESH:D019896', 'Disease') :: ['AATD', 'alpha-1 antitrypsin deficiency'] @entity3139 :: ('MESH:D015434', 'Disease') :: ['Neutrophilic panniculitis', 'panniculitis']
@entity3139 :: (MESH:D015434,Disease) :: ['Neutrophilic Panniculitis']
