Alpha-1 antitrypsin deficiency-associated panniculitis: a case report

Alpha-1 antitrypsin deficiency is a hereditary disorder with predominantly pulmonary but also extrapulmonary manifestations. In the skin, it is associated with panniculitis, a necrotizing neutrophilic inflammation in the subcutis. Clinically, it presents with tender, erythematous, oedematous, recurrent, and potentially ulcerative nodules, most often located on the extremities or the trunk. The entity is often unrecognized, though it can greatly affect the patient’s quality of life and is potentially lethal. Clinical suspicion is supported by deep-skin biopsy, the concentration of alpha-1 antitrypsin in the serum, and electrophoresis, or, if possible, by genotype or phenotype characterization. Currently, the most widely accepted treatment options include dapsone, doxycycline, and augmentation therapy. We report a case of a young Caucasian man with alpha-1 antitrypsin deficiency that manifested with recurring and extremely painful nodules on his legs and gluteal area. The diagnosis was established based on the patient’s history, a low serum level of alpha-1 antitrypsin, and the findings of the deep-skin biopsy, which were suggestive of neutrophilic panniculitis. Total remission was achieved with dapsone, and the therapy was well-tolerated.