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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.
Abstract:
A 3-week-old baby with hydrops fetalis, acute respiratory failure, and shock of unknown etiology developed a diffuse, pustular rash with worsening inflammatory markers and respiratory status despite antimicrobials. Whole exome sequencing revealed a de novo, frameshift mutation in the SAM9DL gene, leading to the diagnosis of SAMD9L-associated autoinflammatory disease.
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