Case reveals neonatal-onset skin lesions in a genetic disorder, suggesting A1ATD may complicate diagnosis.
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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Heiman et al. (2025) studied this question.
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