Acute Disseminated Panniculitis Associated with Alpha-1 Antitrypsin Deficiency
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...
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| Main Authors: | , , , , , |
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| Format: | Book |
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Karger Publishers,
2022-10-01T00:00:00Z.
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| Summary: | 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. |
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| Item Description: | 1662-6567 10.1159/000526156 |