Shin Helen T, Paller Amy, Hoganson George, Willner Judith P, Chang Mary Wu, Orlow Seth J
Ronald O. Perelman Department of Dermatology, New York University School of Medicine, 560 First Avenue, H-100, New York, NY 10016, USA.
J Am Acad Dermatol. 2004 Feb;50(2 Suppl):S61-4. doi: 10.1016/s0190-9622(03)02798-1.
Infantile systemic hyaloinosis is a rare, progressive, and fatal disease that is inherited in an autosomal recessive fashion. We describe 2 patients in whom thickened skin; small nodules of the perianal region, face, and neck; joint contractures; growth failure; diarrhea; and frequent infections developed within the first few weeks of life. Both patients died before 2 years of age.
婴儿全身性透明质酸沉积症是一种罕见的、进行性的致命疾病，以常染色体隐性方式遗传。我们描述了2例患者，他们在出生后的头几周内出现了皮肤增厚；肛周、面部和颈部的小结节；关节挛缩；生长发育迟缓；腹泻；以及频繁感染。两名患者均在2岁前死亡。
