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A diffuse, pustular eruption in a neonate: Recognizing SAMD9L-associated autoinflammatory disease (SAAD)
Melanie M Miller1, Georgina Rowe1, Kathleen O'Brien1
1Department of Dermatology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Pediatric Dermatology
|August 12, 2023
Summary
A rare genetic condition, SAMD9L-associated autoinflammatory disease, was diagnosed in a neonate presenting with severe symptoms. Whole exome sequencing identified a novel mutation, explaining the infant's critical condition.
Area of Science:
- Genetics
- Immunology
- Neonatology
Background:
- A 3-week-old infant presented with hydrops fetalis, acute respiratory failure, and shock of unclear origin.
- The infant developed a diffuse pustular rash and escalating inflammatory markers and respiratory distress, unresponsive to antibiotics.
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