Clinical Images: Periumbilical wound dehiscence and pathergy in a neonate with <scp>OTULIN</scp> ‐related autoinflammatory syndrome

The patient, a boy born to nonconsanguineous White parents at 31 weeks’ gestation, developed periumbilical erythema with presumed abscess on day 4.1 Surgery revealed significant inflammation around a urachal remnant, but no causative organism was cultured. (A) The wound subsequently dehisced and failed to close. (B) He also developed swelling and erythema consistent with pathergy at trauma sites, and biopsy revealed panniculitis. Acute respiratory deterioration ensued, prompting glucocorticoid initiation as supportive therapy. The lungs responded immediately, and the abdominal wound began to slowly improve. Adalimumab and ruxolitinib were later introduced to facilitate steroid tapering and healing. Trio exome sequencing identified a de novo, heterozygous, dominant-negative missense OTULIN variant (p.Cys129Ser) now proven to be driving OTU deubiquitinase with linear linkage specificity (OTULIN)-related autoinflammatory syndrome (ORAS).1 Healing was aided by broad-spectrum antimicrobials, consistent with literature indicating that OTULIN deficiency increases susceptibility to certain pathogens, including Staphylococcus aureus,2 leading the team to continue antibiotics for control of commensals until wound closure. Of note, the patient's clinical presentation is remarkably similar to a Japanese patient reported by Takeda et al. She also developed antibiotic-refractory omphalitis and pustulosis, underwent surgical debridement, and subsequently developed acute respiratory distress syndrome.3 She was later diagnosed with ORAS. ORAS is a profoundly rare disease, and there are no consensus guidelines for management. Some patients respond favorably to tumor necrosis factor (TNF) inhibition, likely due to the upstream role of TNF signaling in OTULIN-related pathogenesis.4 Following wound closure, the patient has been maintained on subcutaneous adalimumab monotherapy, with monitoring for the onset of panniculitis and/or lipodystrophy. Informed consent was obtained from the patient. Open access publishing facilitated by University of New South Wales, as part of the Wiley - University of New South Wales agreement via the Council of Australian University Librarians. Disclosure Form Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.