Neonatal‐Onset Transient Subcutaneous Nodules as an Atypical Initial Presentation of Alpha‐1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency (A1ATD) is a rare genetic disorder with variable clinical presentations. We report a case of a term infant who presented with recurrent subcutaneous nodules and elevated liver enzymes, ultimately diagnosed with homozygous Z allele variants in the SERPINA1 gene. Histology showed a fibrous reparative process, rather than classic panniculitis, highlighting an atypical presentation. This case underscores the importance of considering A1ATD in the differential diagnosis of neonatal cutaneous lesions.
Authors
- Efrat Bar‐Ilan (ORCID: https://orcid.org/0000-0003-1260-3960)
- Aviv Barzilai (ORCID: https://orcid.org/0000-0002-8762-2296)
- Sophia Heiman (ORCID: https://orcid.org/0000-0002-2233-1033)
- Shoshana Greenberger (ORCID: https://orcid.org/0000-0001-8308-2790)
- Batia Weiss
- Tal Kind
Institutions
- Tel Aviv University (IL)
- Sheba Medical Center (IL)
- Edmond and Lily Safra Children's Hospital (IL)
Publication Details
- Journal
- Pediatric Dermatology
- Published
- 2025-11-24
- DOI
- https://doi.org/10.1111/pde.70115
- Primary Topic
- Protease and Inhibitor Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00