Grouped papules in Hurler-Scheie syndrome

  • James A. Schiro
  • , Susan B. Mallory
  • , Laurie Demmer
  • , S. Bruce Dowton
  • , Markham C. Luke

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

In a patient with Hurler-Scheie syndrome, a type of mucopolysaccharidosis (1 H/S), an initial presentation was grouped papules on the extensor surfaces on the upper portions of the arms and legs. Other physical findings included progressive flexion contractures and mild developmental delay. The patient had deficient alpha-L-iduronidase activity, and electron microscopy showed large cytoplasmic vacuoles and lysosomes, consistent with Hurler-Scheie syndrome. Findings of grouped papules have not been previously reported in patients with this syndrome.

Original languageEnglish
Pages (from-to)868-870
Number of pages3
JournalJournal of the American Academy of Dermatology
Volume35
Issue number5 II
DOIs
StatePublished - Nov 1996

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