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- Title
Acute Disseminated Panniculitis Associated with Alpha-1 Antitrypsin Deficiency.
- Authors
Murinello, António Guilherme; Sá Damásio, Helena; Guedes, Pedro; de Figueiredo, António Manuel; Santos, Adriana; Serrano, Ana
- Abstract
Alpha-1 antitrypsin deficiency, although one of the most common genetic diseases, is a very rare and often undiagnosed cause of panniculitis. The authors present a case characterized by an acute involvement of several areas in the thorax, abdomen, and limbs, occurring after repetitive trauma of the perineal area caused by a long period of cycling. After performing the differential diagnosis and establishing etiology, the patient was started on augmentation therapy with plasma-derived synthetic human alpha-1 proteinase inhibitor and the disease has been under control since then. We recommend lifelong treatment with this medication. At the end of a 10-year follow-up, there has been no evidence of pulmonary emphysema or liver disease. The authors perform a concise review of the genetic and pathogenic mechanisms behind this disease, with a special focus on panniculitis and its treatment.
- Subjects
ALPHA 1-antitrypsin deficiency; ADIPOSE tissue diseases; TRYPSIN inhibitors; PULMONARY emphysema; GENETIC disorders
- Publication
Case Reports in Dermatology, 2022, Vol 14, Issue 3, p283
- ISSN
1662-6567
- Publication type
Case Study
- DOI
10.1159/000526156