Published Date: August 12, 2023

Full Text Article

A diffuse, pustular eruption in a neonate: Recognizing SAMD9L-associated autoinflammatory disease (SAAD)

Authors: Melanie M Miller, Georgina Rowe, Kathleen O'Brien, Gene Kim, Minnelly Luu

Pediatr Dermatol. 2023 Aug 12. doi: 10.1111/pde.15411. Online ahead of print.


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.

PMID: 37571861DOI: 10.1111/pde.15411