A 9-year-old girl had a history of fulminant systemic autoinflammation from birth, manifesting as acute respiratory failure, hand tremors, and generalized cutaneous erythema.Brain magnetic resonance imaging revealed cerebral injury, and laboratory tests showed markedly elevated inflammatory markers, including C-reactive protein and erythrocyte sedimentation rate.At 20 months of age, she was hospitalized for life-threatening Aspergillus pneumonia complicated by liver dysfunction.During this period, a diagnosis of incontinentia pigmenti (IP) was established.
Yin et al. (Wed,) studied this question.