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 language||English (US)|
|Number of pages||4|
|Journal||Journal of the American Academy of Dermatology|
|Issue number||2 SUPPL.|
|State||Published - Feb 2004|
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