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

• Główni autorzy: Laura Ventura-Espejo (Autor), Inés Gracia-Darder (Autor), Silvia Escribá-Bori (Autor), Eva Regina Amador-González (Autor), Ana Martín-Santiago (Autor), Jan Ramakers (Autor)
• Format: Książka
• Wydane: BMC, 2021-06-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: 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...