Infantile systemic hyalinosis

Helen T. Shin*, Amy Paller, George Hoganson, Judith P. Willner, Mary Wu Chang, Seth J. Orlow

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

30 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)61-64
Number of pages4
JournalJournal of the American Academy of Dermatology
Volume50
Issue number2 SUPPL.
StatePublished - Feb 2004

ASJC Scopus subject areas

  • Dermatology

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