Patient with H syndrome, cardiogenic shock, multiorgan infiltration, and digital ischemia

• Main Authors: Laura Ventura-Espejo (Author), Inés Gracia-Darder (Author), Silvia Escribá-Bori (Author), Eva Regina Amador-González (Author), Ana Martín-Santiago (Author), Jan Ramakers (Author)
• Format: Book
• Published: BMC, 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...