Alpha-1-antitrypsin associated panniculitis: the MS variant
Pedram Geraminejad1, James R DeBloom, Hobart W Walling
1Department of Dermatology, University of Iowa, Iowa City, USA.
Abstract:
Over 90 mutant alleles of the alpha-1-antitrypsin (AAT) gene are recognized and classified by mobility on an acid starch gel. The four major categories include: F=fast, M=medium, S=slow, Z=very slow. Among 41 reported cases of AAT panniculitis, most have the ZZ phenotype with AAT levels below normal. We report two cases of AAT panniculitis with MS phenotype and normal AAT levels. In addition, we review the pathophysiology, epidemiology, and extracutaneous manifestations of AAT disease and propose a diagnostic algorithm for ulcerative panniculitis. A 42-year-old man presented with a solitary plaque on the left thigh exacerbated by trauma or excessive activity. The lesion frequently suppurated with a yellowish oily material. Twenty years before, he had fractured his left femur which was repaired with a metal plate. X-rays, histology with special stains for organisms, and cultures were negative. AAT phenotype was MS and AAT value was normal. A 43-year-old woman presented with multiple plaques on the proximal extremities which suppurated with exercise or trauma. AAT phenotype was MS and AAT level was normal. Histologic exam for both patients showed a dense neutrophilic infiltrate with septal and lobular panniculitis and areas of necrobiosis in the lower reticular dermis.
Insights
Alpha-1-antitrypsin (AAT) deficiency panniculitis typically presents with the ZZ phenotype and low AAT levels. This study highlights two cases of AAT panniculitis with the MS phenotype and normal AAT levels, expanding the understanding of this rare condition.
Area of Science:
- Genetics
- Dermatology
- Immunology
Background:
- Alpha-1-antitrypsin (AAT) deficiency is a genetic disorder with over 90 identified mutant alleles.
- The ZZ phenotype is most commonly associated with AAT deficiency disease, often presenting with below-normal AAT levels.
- AAT deficiency panniculitis is a rare manifestation, typically linked to the ZZ phenotype.
Observation:
- Two patients with ulcerative panniculitis and the MS AAT phenotype were identified.
- Both patients exhibited normal serum AAT levels despite their panniculitis.
- Histopathology revealed neutrophilic infiltrate, septal and lobular panniculitis, and necrobiosis.
Findings:
- This study reports the first cases of AAT panniculitis associated with the MS phenotype and normal AAT levels.
- The findings challenge the established association between AAT panniculitis and only the ZZ phenotype.
- The pathophysiology may involve mechanisms beyond simple AAT deficiency.
Implications:
- The diagnostic criteria for AAT deficiency panniculitis may need expansion to include other phenotypes.
- Further research is needed to elucidate the pathogenesis of AAT panniculitis in individuals with normal AAT levels.
- This expands the differential diagnosis for ulcerative panniculitis, especially in cases with atypical AAT phenotypes.
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