Patient with H syndrome, cardiogenic shock, multiorgan infiltration, and digital ischemia
Abstract
Background H syndrome (HS) is a rare autoinflammatory disease caused by a mutation in the solute carrier family 29, member 3 (SCL29A3) gene. It has a variable clinical presentation and little phenotype-genotype correlation. The pathognomonic sign of HS is cutaneous hyperpigmentation located mainly in the inner thighs and often accompanied by other systemic manifestations. Improvement after tocilizumab treatment has been reported in a few...
Paper Details
Title
Patient with H syndrome, cardiogenic shock, multiorgan infiltration, and digital ischemia
Published Date
Jun 30, 2021
Journal
Volume
19
Issue
1
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