Infantile systemic hyalinosis: a case report and mutation analysis in a Chinese infant.

摘要

Sir, Infantile systemic hyalinosis (ISH; MM 236490) is a rare autosomal recessively inherited disease characterized by the deposition of amorphous hyaline material in various tissues, hi 2003, Hants et til.1 and Dowling et al.2 first reported mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) to be the cause of ISH. We present a Chinese patient with ISH with two heterozygous mutations in CMG2.This patient was the first child of healthy nonconsanguine-ous Chinese parents. He was born at term by caesarean section with a body weight of 2650 g. One month after birth he developed violaceous papules on his face and refractory diarrhoea.