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Case Reports
. 2004 Feb;50(2 Suppl):S61-4.
doi: 10.1016/s0190-9622(03)02798-1.

Infantile systemic hyalinosis

Helen T Shin  1 , Amy Paller, George Hoganson, Judith P Willner, Mary Wu Chang, Seth J Orlow
Affiliations
Case Reports

Infantile systemic hyalinosis

Helen T Shin et al. J Am Acad Dermatol. 2004 Feb.

Abstract

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.

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