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

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, le...

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Bibliographic Details
Published inPediatric dermatology Vol. 41; no. 1; pp. 112 - 114
Main Authors Miller, Melanie M., Rowe, Georgina, O'Brien, Kathleen, Kim, Gene, Luu, Minnelly
Format Journal Article
LanguageEnglish
Published United States Wiley Subscription Services, Inc 01.01.2024
Subjects
Antimicrobial agents
Dermatology
Frameshift mutation
genodermatoses
Hydrops fetalis
immunodeficiency
Inflammation
Inflammatory diseases
neonatal
Newborn babies
Pediatrics
neonatal
genodermatoses
immunodeficiency
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Summary: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.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.15411