Infantile systemic hyalinosis

被引：28

作者：

Shin, HT

Paller, A

Hoganson, G

Willner, JP

Chang, MW

Orlow, SJ

机构：

[1] NYU, Sch Med, Ronald O Perelman Dept Dermatol, New York, NY 10016 USA

[2] Northwestern Univ, Sch Med, Childrens Mem Hosp, Dept Pediat, Chicago, IL USA

[3] Northwestern Univ, Sch Med, Childrens Mem Hosp, Dept Dermatol, Chicago, IL USA

[4] Univ Illinois, Dept Pediat, Chicago, IL 60680 USA

[5] Univ Illinois, Dept Genet, Chicago, IL 60680 USA

[6] Mt Sinai Sch Med, Dept Human Genet, New York, NY USA

[7] Mt Sinai Sch Med, Dept Pediat, New York, NY USA

来源：

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY | 2004年 / 50卷 / 02期

关键词：

D O I：

10.1016/S0190-9622(03)02798-1

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

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.

引用

页码：S61 / S64

页数：4

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