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, recurr...
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Slovenian Medical Association
2025-06-01
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| Series: | Zdravniški Vestnik |
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| Online Access: | https://vestnik.szd.si/index.php/ZdravVest/article/view/3587 |
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| author | Špela But Maja Jerše Pij Bogomir Marko |
| author_facet | Špela But Maja Jerše Pij Bogomir Marko |
| author_sort | Špela But |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-053b016e30e94903a826bd3eff0e6320 |
| institution | Kabale University |
| issn | 1318-0347 1581-0224 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Slovenian Medical Association |
| record_format | Article |
| series | Zdravniški Vestnik |
| spelling | doaj-art-053b016e30e94903a826bd3eff0e63202025-08-20T03:28:58ZengSlovenian Medical AssociationZdravniški Vestnik1318-03471581-02242025-06-01945-614815410.6016/ZdravVestn.35873143Alpha-1 antitrypsin deficiency-associated panniculitis: a case reportŠpela But0Maja Jerše1Pij Bogomir Marko2Department of Dermatovenereology, University Medical Centre Ljubljana, Ljubljana, SloveniaInstitute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, SloveniaDepartment of Dermatology and Venereal Diseases, University Medical Centre Maribor, Maribor, SloveniaAlpha-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.https://vestnik.szd.si/index.php/ZdravVest/article/view/3587panniculitisneutrophilic panniculitisalpha-1 antitrypsinalpha-1 antitrypsin deficiencydapsone |
| spellingShingle | Špela But Maja Jerše Pij Bogomir Marko Alpha-1 antitrypsin deficiency-associated panniculitis: a case report Zdravniški Vestnik panniculitis neutrophilic panniculitis alpha-1 antitrypsin alpha-1 antitrypsin deficiency dapsone |
| title | Alpha-1 antitrypsin deficiency-associated panniculitis: a case report |
| title_full | Alpha-1 antitrypsin deficiency-associated panniculitis: a case report |
| title_fullStr | Alpha-1 antitrypsin deficiency-associated panniculitis: a case report |
| title_full_unstemmed | Alpha-1 antitrypsin deficiency-associated panniculitis: a case report |
| title_short | Alpha-1 antitrypsin deficiency-associated panniculitis: a case report |
| title_sort | alpha 1 antitrypsin deficiency associated panniculitis a case report |
| topic | panniculitis neutrophilic panniculitis alpha-1 antitrypsin alpha-1 antitrypsin deficiency dapsone |
| url | https://vestnik.szd.si/index.php/ZdravVest/article/view/3587 |
| work_keys_str_mv | AT spelabut alpha1antitrypsindeficiencyassociatedpanniculitisacasereport AT majajerse alpha1antitrypsindeficiencyassociatedpanniculitisacasereport AT pijbogomirmarko alpha1antitrypsindeficiencyassociatedpanniculitisacasereport |