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.

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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
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article

Neonatal‐Onset Transient Subcutaneous Nodules as an Atypical Initial Presentation of Alpha‐1 Antitrypsin Deficiency

Efrat Bar‐Ilan, Aviv Barzilai, Sophia Heiman, Shoshana Greenberger et al.
Pediatric Dermatology
Protease and Inhibitor Mechanisms
article

Neonatal‐Onset Transient Subcutaneous Nodules as an Atypical Initial Presentation of Alpha‐1 Antitrypsin Deficiency

Efrat Bar‐Ilan, Aviv Barzilai, Sophia Heiman, Shoshana Greenberger, Batia Weiss, Tal Kind
article en

Abstract

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.

Pediatric Dermatology
Tel Aviv University (IL), Sheba Medical Center (IL), Edmond and Lily Safra Children's Hospital (IL)
Openalex Percentile: Top 55%
Protease and Inhibitor Mechanisms
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